UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
gnomAD v4:
4-113369610-AGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.113369617_113369619del , CM000666.2:g.113369617_113369619del | GRCh38 |
| NC_000004.11:g.114290773_114290775del , CM000666.1:g.114290773_114290775del | GRCh37 |
| NC_000004.10:g.114510222_114510224del | NCBI36 |
| NG_009006.2:g.556535_556537del , LRG_327:g.556535_556537del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000506344.6:c.11563_11565del | ENSP00000422888.2:p.Glu3855del | |
| ENST00000705785.1:c.5248_5250del | ENSP00000516169.1:p.Glu1750del | |
| ENST00000510275.8:c.1849_1851del | ENSP00000421023.4:p.Glu617del | |
| ENST00000612754.2:c.2347_2349del | ENSP00000482888.2:p.Glu783del | |
| ENST00000681990.1:n.2804_2806del | ||
| ENST00000682049.1:n.2012_2014del | ||
| ENST00000682959.1:n.2756_2758del | ||
| ENST00000683389.1:n.1585_1587del | ||
| ENST00000683826.1:n.3547_3549del | ||
| ENST00000683893.1:n.1528_1530del | ||
| ENST00000683908.1:n.1921_1923del | ||
| ENST00000683972.1:n.8267_8269del | ||
| ENST00000684225.1:n.2893_2895del | ||
| ENST00000684378.1:n.877_879del | ||
| ENST00000684470.1:n.3311_3313del | ||
| ENST00000684730.1:n.1526_1528del | ||
| ENST00000357077.9:c.11422_11424del MANE Select | ENSP00000349588.4:p.Glu3808del | |
| ENST00000503423.6:c.11260_11262del | ENSP00000421011.2:p.Glu3754del | |
| ENST00000505342.6:c.2554_2556del | ENSP00000422498.2:p.Glu852del | |
| ENST00000510275.7:c.877_879del | ENSP00000421023.3:p.Glu293del | |
| ENST00000671704.1:c.4981_4983del | ENSP00000500926.1:p.Glu1661del | |
| ENST00000671727.1:c.5068_5070del | ENSP00000500102.1:p.Glu1690del | |
| ENST00000671756.1:c.5005_5007del | ENSP00000500712.1:p.Glu1669del | |
| ENST00000671762.1:c.5203_5205del | ENSP00000500954.1:p.Glu1735del | |
| ENST00000671793.1:c.5104_5106del | ENSP00000499928.1:p.Glu1702del | |
| ENST00000671809.1:c.11296_11298del | ENSP00000500872.1:p.Glu3766del | |
| ENST00000671825.1:c.5104_5106del | ENSP00000500459.1:p.Glu1702del | |
| ENST00000671854.1:c.4906_4908del | ENSP00000500833.1:p.Glu1636del | |
| ENST00000671863.1:c.*660_*662del | ENSP00000500855.1:n.*660_*662del | |
| ENST00000671882.1:c.11239_11241del | ENSP00000499887.1:p.Glu3747del | |
| ENST00000671893.1:c.4783_4785del | ENSP00000499986.1:p.Glu1595del | |
| ENST00000671906.1:c.11236_11238del | ENSP00000499953.1:p.Glu3746del | |
| ENST00000671951.1:c.4882_4884del | ENSP00000500528.1:p.Glu1628del | |
| ENST00000671971.1:c.11467_11469del | ENSP00000499832.1:p.Glu3823del | |
| ENST00000672045.1:c.5005_5007del | ENSP00000499959.1:p.Glu1669del | |
| ENST00000672068.1:c.11260_11262del | ENSP00000499902.1:p.Glu3754del | |
| ENST00000672088.1:c.4981_4983del | ENSP00000499837.1:p.Glu1661del | |
| ENST00000672090.1:c.11260_11262del | ENSP00000500540.1:p.Glu3754del | |
| ENST00000672177.1:c.5017_5019del | ENSP00000500918.1:p.Glu1673del | |
| ENST00000672209.1:c.11260_11262del | ENSP00000499982.1:p.Glu3754del | |
| ENST00000672221.1:c.5002_5004del | ENSP00000500473.1:p.Glu1668del | |
| ENST00000672240.1:c.11503_11505del | ENSP00000500548.1:p.Glu3835del | |
| ENST00000672246.1:c.4990_4992del | ENSP00000499990.1:p.Glu1664del | |
| ENST00000672251.1:c.11224_11226del | ENSP00000500580.1:p.Glu3742del | |
| ENST00000672312.1:c.5005_5007del | ENSP00000500378.1:p.Glu1669del | |
| ENST00000672315.1:c.5104_5106del | ENSP00000500780.1:p.Glu1702del | |
| ENST00000672350.1:c.4942_4944del | ENSP00000500420.1:p.Glu1648del | |
| ENST00000672356.1:c.4882_4884del | ENSP00000500544.1:p.Glu1628del | |
| ENST00000672362.1:c.5140_5142del | ENSP00000500522.1:p.Glu1714del | |
| ENST00000672366.1:c.5068_5070del | ENSP00000500937.1:p.Glu1690del | |
| ENST00000672402.1:c.5104_5106del | ENSP00000500881.1:p.Glu1702del | |
| ENST00000672411.1:c.2731_2733del | ENSP00000499979.1:p.Glu911del | |
| ENST00000672502.1:c.11323_11325del | ENSP00000499870.1:p.Glu3775del | |
| ENST00000672684.1:c.4906_4908del | ENSP00000499943.1:p.Glu1636del | |
| ENST00000672696.1:c.5104_5106del | ENSP00000499828.1:p.Glu1702del | |
| ENST00000672731.1:c.4981_4983del | ENSP00000500908.1:p.Glu1661del | |
| ENST00000672759.1:c.4882_4884del | ENSP00000499881.1:p.Glu1628del | |
| ENST00000672779.1:c.5212_5214del | ENSP00000499869.1:p.Glu1738del | |
| ENST00000672793.1:c.5005_5007del | ENSP00000500150.1:p.Glu1669del | |
| ENST00000672830.1:c.11359_11361del | ENSP00000500222.1:p.Glu3787del | |
| ENST00000672854.1:c.4969_4971del | ENSP00000500311.1:p.Glu1657del | |
| ENST00000672880.1:c.5005_5007del | ENSP00000500866.1:p.Glu1669del | |
| ENST00000672915.1:c.2554_2556del | ENSP00000500622.1:p.Glu852del | |
| ENST00000672930.1:c.11260_11262del | ENSP00000499913.1:p.Glu3754del | |
| ENST00000672934.1:c.11161_11163del | ENSP00000500645.1:p.Glu3721del | |
| ENST00000672955.1:c.4981_4983del | ENSP00000500527.1:p.Glu1661del | |
| ENST00000672965.1:c.5041_5043del | ENSP00000499891.1:p.Glu1681del | |
| ENST00000672986.1:c.4585_4587del | ENSP00000499967.1:p.Glu1529del | |
| ENST00000672990.1:c.5041_5043del | ENSP00000500275.1:p.Glu1681del | |
| ENST00000673044.1:c.5104_5106del | ENSP00000500933.1:p.Glu1702del | |
| ENST00000673048.1:c.2716_2718del | ENSP00000500832.1:p.Glu906del | |
| ENST00000673109.1:c.11137_11139del | ENSP00000500265.1:p.Glu3713del | |
| ENST00000673231.1:c.2731_2733del | ENSP00000500111.1:p.Glu911del | |
| ENST00000673240.1:c.5212_5214del | ENSP00000499996.1:p.Glu1738del | |
| ENST00000673255.1:c.5005_5007del | ENSP00000500423.1:p.Glu1669del | |
| ENST00000673298.1:c.11260_11262del | ENSP00000500245.1:p.Glu3754del | |
| ENST00000673334.1:c.11260_11262del | ENSP00000500854.1:p.Glu3754del | |
| ENST00000673353.1:c.2695_2697del | ENSP00000500007.1:p.Glu899del | |
| ENST00000673363.1:c.11368_11370del | ENSP00000500539.1:p.Glu3790del | |
| ENST00000673430.1:c.5005_5007del | ENSP00000500269.1:p.Glu1669del | |
| ENST00000673453.1:c.4933_4935del | ENSP00000500112.1:p.Glu1645del | |
| ENST00000673536.1:c.4675_4677del | ENSP00000500524.1:p.Glu1559del | |
| ENST00000673538.1:c.*660_*662del | ENSP00000500842.1:n.*660_*662del | |
| ENST00000673546.1:c.4942_4944del | ENSP00000500843.1:p.Glu1648del | |
| ENST00000673555.1:c.11260_11262del | ENSP00000500947.1:p.Glu3754del | |
| ENST00000673573.1:c.11197_11199del | ENSP00000500883.1:p.Glu3733del | |
| ENST00000264366.10:c.11323_11325del | ENSP00000264366.6:p.Glu3775del | |
| ENST00000357077.8:c.11422_11424del | ENSP00000349588.4:p.Glu3808del | |
| ENST00000394537.7:c.5167_5169del | ENSP00000378044.3:p.Glu1723del | |
| ENST00000505342.5:c.2452_2454del | ENSP00000422498.1:p.Glu818del | |
| ENST00000506722.5:c.5140_5142del | ENSP00000421067.1:p.Glu1714del | |
| ENST00000509550.5:c.2695_2697del | ENSP00000426944.1:p.Glu899del | |
| ENST00000510275.6:c.1123_1125del | ENSP00000421023.2:p.Glu375del | |
| ENST00000514960.5:c.2171_2173del | ||
| ENST00000612754.1:c.*2783_*2785del | ENSP00000482888.1:n.*2783_*2785del | |
| NM_001127493.1:c.5140_5142del , LRG_327t2:c.5140_5142del | NP_001120965.1:p.Glu1714del | |
| NM_001148.4:c.11422_11424del , LRG_327t1:c.11422_11424del | NP_001139.3:p.Glu3808del | |
| NM_020977.3:c.5167_5169del | NP_066187.2:p.Glu1723del | |
| XM_005262942.3:c.11455_11457del | XP_005262999.1:p.Glu3819del | |
| XM_005262945.1:c.11323_11325del | XP_005263002.1:p.Glu3775del | |
| XM_005262948.3:c.5164_5166del | XP_005263005.1:p.Glu1722del | |
| XM_006714188.2:c.11509_11511del | XP_006714251.1:p.Glu3837del | |
| XM_006714189.2:c.11473_11475del | XP_006714252.1:p.Glu3825del | |
| XM_006714190.2:c.5221_5223del | XP_006714253.1:p.Glu1741del | |
| XM_006714191.2:c.5254_5256del | XP_006714254.1:p.Glu1752del | |
| XM_006714192.2:c.5185_5187del | XP_006714255.1:p.Glu1729del | |
| XM_006714193.2:c.5254_5256del | XP_006714256.1:p.Glu1752del | |
| XM_006714194.2:c.11449_11451del | XP_006714257.1:p.Glu3817del | |
| XM_011531891.1:c.11494_11496del | XP_011530193.1:p.Glu3832del | |
| NM_001127493.2:c.5140_5142del | NP_001120965.1:p.Glu1714del | |
| NM_001148.5:c.11422_11424del | NP_001139.3:p.Glu3808del | |
| NM_001354225.1:c.5179_5181del | NP_001341154.1:p.Glu1727del | |
| NM_001354228.1:c.5068_5070del | NP_001341157.1:p.Glu1690del | |
| NM_001354230.1:c.5146_5148del | NP_001341159.1:p.Glu1716del | |
| NM_001354231.1:c.5209_5211del | NP_001341160.1:p.Glu1737del | |
| NM_001354232.1:c.5203_5205del | NP_001341161.1:p.Glu1735del | |
| NM_001354235.1:c.5164_5166del | NP_001341164.1:p.Glu1722del | |
| NM_001354236.1:c.5065_5067del | NP_001341165.1:p.Glu1689del | |
| NM_001354237.1:c.5245_5247del | NP_001341166.1:p.Glu1749del | |
| NM_001354239.1:c.5137_5139del | NP_001341168.1:p.Glu1713del | |
| NM_001354240.1:c.5212_5214del | NP_001341169.1:p.Glu1738del | |
| NM_001354241.1:c.5212_5214del | NP_001341170.1:p.Glu1738del | |
| NM_001354242.1:c.5209_5211del | NP_001341171.1:p.Glu1737del | |
| NM_001354243.1:c.5104_5106del | NP_001341172.1:p.Glu1702del | |
| NM_001354244.1:c.5101_5103del | NP_001341173.1:p.Glu1701del | |
| NM_001354245.1:c.5005_5007del | NP_001341174.1:p.Glu1669del | |
| NM_001354246.1:c.5164_5166del | NP_001341175.1:p.Glu1722del | |
| NM_001354249.1:c.4981_4983del | NP_001341178.1:p.Glu1661del | |
| NM_001354252.1:c.5137_5139del | NP_001341181.1:p.Glu1713del | |
| NM_001354253.1:c.4942_4944del | NP_001341182.1:p.Glu1648del | |
| NM_001354254.1:c.5116_5118del | NP_001341183.1:p.Glu1706del | |
| NM_001354255.1:c.5104_5106del | NP_001341184.1:p.Glu1702del | |
| NM_001354256.1:c.5101_5103del | NP_001341185.1:p.Glu1701del | |
| NM_001354257.1:c.4906_4908del | NP_001341186.1:p.Glu1636del | |
| NM_001354258.1:c.5068_5070del | NP_001341187.1:p.Glu1690del | |
| NM_001354260.1:c.4882_4884del | NP_001341189.1:p.Glu1628del | |
| NM_001354261.1:c.5026_5028del | NP_001341190.1:p.Glu1676del | |
| NM_001354262.1:c.5005_5007del | NP_001341191.1:p.Glu1669del | |
| NM_001354264.1:c.5002_5004del | NP_001341193.1:p.Glu1668del | |
| NM_001354265.1:c.5164_5166del | NP_001341194.1:p.Glu1722del | |
| NM_001354266.1:c.4981_4983del | NP_001341195.1:p.Glu1661del | |
| NM_001354267.1:c.4981_4983del | NP_001341196.1:p.Glu1661del | |
| NM_001354268.1:c.4969_4971del | NP_001341197.1:p.Glu1657del | |
| NM_001354269.1:c.4954_4956del | NP_001341198.1:p.Glu1652del | |
| NM_001354270.1:c.4942_4944del | NP_001341199.1:p.Glu1648del | |
| NM_001354271.1:c.4882_4884del | NP_001341200.1:p.Glu1628del | |
| NM_001354272.1:c.5038_5040del | NP_001341201.1:p.Glu1680del | |
| NM_001354273.1:c.4867_4869del | NP_001341202.1:p.Glu1623del | |
| NM_001354274.1:c.4933_4935del | NP_001341203.1:p.Glu1645del | |
| NM_001354275.1:c.5005_5007del | NP_001341204.1:p.Glu1669del | |
| NM_001354276.1:c.4981_4983del | NP_001341205.1:p.Glu1661del | |
| NM_001354277.1:c.4783_4785del | NP_001341206.1:p.Glu1595del | |
| NM_001354278.1:c.2695_2697del | NP_001341207.1:p.Glu899del | |
| NM_001354279.1:c.2731_2733del | NP_001341208.1:p.Glu911del | |
| NM_001354280.1:c.2716_2718del | NP_001341209.1:p.Glu906del | |
| NM_001354281.1:c.2695_2697del | NP_001341210.1:p.Glu899del | |
| NM_001354282.1:c.2731_2733del | NP_001341211.1:p.Glu911del | |
| NM_020977.4:c.5167_5169del | NP_066187.2:p.Glu1723del | |
| XM_005262945.3:c.11323_11325del | XP_005263002.1:p.Glu3775del | |
| XM_017008067.1:c.11563_11565del | XP_016863556.1:p.Glu3855del | |
| XM_017008069.1:c.11539_11541del | XP_016863558.1:p.Glu3847del | |
| XM_017008071.2:c.11449_11451del | XP_016863560.1:p.Glu3817del | |
| XM_017008072.2:c.11425_11427del | XP_016863561.1:p.Glu3809del | |
| XM_017008073.2:c.11422_11424del | XP_016863562.1:p.Glu3808del | |
| XM_017008074.2:c.11395_11397del | XP_016863563.1:p.Glu3799del | |
| XM_017008075.2:c.11359_11361del | XP_016863564.1:p.Glu3787del | |
| XM_017008076.2:c.11422_11424del | XP_016863565.1:p.Glu3808del | |
| XM_017008077.2:c.11236_11238del | XP_016863566.1:p.Glu3746del | |
| XM_017008078.2:c.5167_5169del | XP_016863567.1:p.Glu1723del | |
| XM_017008080.2:c.5017_5019del | XP_016863569.1:p.Glu1673del | |
| XM_024454016.1:c.11458_11460del | XP_024309784.1:p.Glu3820del | |
| XM_024454017.1:c.5203_5205del | XP_024309785.1:p.Glu1735del | |
| XM_024454018.1:c.5068_5070del | XP_024309786.1:p.Glu1690del | |
| XM_024454019.1:c.5146_5148del | XP_024309787.1:p.Glu1716del | |
| XM_024454020.1:c.5068_5070del | XP_024309788.1:p.Glu1690del | |
| XM_024454021.1:c.5065_5067del | XP_024309789.1:p.Glu1689del | |
| XM_024454022.1:c.5005_5007del | XP_024309790.1:p.Glu1669del | |
| XM_024454023.1:c.4867_4869del | XP_024309791.1:p.Glu1623del | |
| NM_001148.6:c.11422_11424del MANE Select | NP_001139.3:p.Glu3808del | |
| NM_001127493.3:c.5140_5142del | NP_001120965.1:p.Glu1714del | |
| NM_001354225.2:c.5179_5181del | NP_001341154.1:p.Glu1727del | |
| NM_001354228.2:c.5068_5070del | NP_001341157.1:p.Glu1690del | |
| NM_001354230.2:c.5146_5148del | NP_001341159.1:p.Glu1716del | |
| NM_001354231.2:c.5209_5211del | NP_001341160.1:p.Glu1737del | |
| NM_001354232.2:c.5203_5205del | NP_001341161.1:p.Glu1735del | |
| NM_001354235.2:c.5164_5166del | NP_001341164.1:p.Glu1722del | |
| NM_001354236.2:c.5065_5067del | NP_001341165.1:p.Glu1689del | |
| NM_001354237.2:c.5245_5247del | NP_001341166.1:p.Glu1749del | |
| NM_001354239.2:c.5137_5139del | NP_001341168.1:p.Glu1713del | |
| NM_001354240.2:c.5212_5214del | NP_001341169.1:p.Glu1738del | |
| NM_001354241.2:c.5212_5214del | NP_001341170.1:p.Glu1738del | |
| NM_001354242.2:c.5209_5211del | NP_001341171.1:p.Glu1737del | |
| NM_001354243.2:c.5104_5106del | NP_001341172.1:p.Glu1702del | |
| NM_001354244.2:c.5101_5103del | NP_001341173.1:p.Glu1701del | |
| NM_001354245.2:c.5005_5007del | NP_001341174.1:p.Glu1669del | |
| NM_001354246.2:c.5164_5166del | NP_001341175.1:p.Glu1722del | |
| NM_001354249.2:c.4981_4983del | NP_001341178.1:p.Glu1661del | |
| NM_001354252.2:c.5137_5139del | NP_001341181.1:p.Glu1713del | |
| NM_001354253.2:c.4942_4944del | NP_001341182.1:p.Glu1648del | |
| NM_001354254.2:c.5116_5118del | NP_001341183.1:p.Glu1706del | |
| NM_001354255.2:c.5104_5106del | NP_001341184.1:p.Glu1702del | |
| NM_001354256.2:c.5101_5103del | NP_001341185.1:p.Glu1701del | |
| NM_001354257.2:c.4906_4908del | NP_001341186.1:p.Glu1636del | |
| NM_001354258.2:c.5068_5070del | NP_001341187.1:p.Glu1690del | |
| NM_001354260.2:c.4882_4884del | NP_001341189.1:p.Glu1628del | |
| NM_001354261.2:c.5026_5028del | NP_001341190.1:p.Glu1676del | |
| NM_001354262.2:c.5005_5007del | NP_001341191.1:p.Glu1669del | |
| NM_001354264.2:c.5002_5004del | NP_001341193.1:p.Glu1668del | |
| NM_001354265.2:c.5164_5166del | NP_001341194.1:p.Glu1722del | |
| NM_001354266.2:c.4981_4983del | NP_001341195.1:p.Glu1661del | |
| NM_001354267.2:c.4981_4983del | NP_001341196.1:p.Glu1661del | |
| NM_001354268.2:c.4969_4971del | NP_001341197.1:p.Glu1657del | |
| NM_001354269.3:c.4954_4956del | NP_001341198.1:p.Glu1652del | |
| NM_001354270.2:c.4942_4944del | NP_001341199.1:p.Glu1648del | |
| NM_001354271.2:c.4882_4884del | NP_001341200.1:p.Glu1628del | |
| NM_001354272.2:c.5038_5040del | NP_001341201.1:p.Glu1680del | |
| NM_001354273.2:c.4867_4869del | NP_001341202.1:p.Glu1623del | |
| NM_001354274.2:c.4933_4935del | NP_001341203.1:p.Glu1645del | |
| NM_001354275.2:c.5005_5007del | NP_001341204.1:p.Glu1669del | |
| NM_001354276.2:c.4981_4983del | NP_001341205.1:p.Glu1661del | |
| NM_001354277.2:c.4783_4785del | NP_001341206.1:p.Glu1595del | |
| NM_001354278.2:c.2695_2697del | NP_001341207.1:p.Glu899del | |
| NM_001354279.2:c.2731_2733del | NP_001341208.1:p.Glu911del | |
| NM_001354280.2:c.2716_2718del | NP_001341209.1:p.Glu906del | |
| NM_001354281.2:c.2695_2697del | NP_001341210.1:p.Glu899del | |
| NM_001354282.2:c.2731_2733del | NP_001341211.1:p.Glu911del | |
| NM_001386142.1:c.11188_11190del | NP_001373071.1:p.Glu3730del | |
| NM_001386143.1:c.5104_5106del | NP_001373072.1:p.Glu1702del | |
| NM_001386144.1:c.5212_5214del | NP_001373073.1:p.Glu1738del | |
| NM_001386146.1:c.4948_4950del | NP_001373075.1:p.Glu1650del | |
| NM_001386147.1:c.4993_4995del | NP_001373076.1:p.Glu1665del | |
| NM_001386148.2:c.5152_5154del | NP_001373077.1:p.Glu1718del | |
| NM_001386149.1:c.4948_4950del | NP_001373078.1:p.Glu1650del | |
| NM_001386150.1:c.4948_4950del | NP_001373079.1:p.Glu1650del | |
| NM_001386151.1:c.4882_4884del | NP_001373080.1:p.Glu1628del | |
| NM_001386152.1:c.5224_5226del | NP_001373081.1:p.Glu1742del | |
| NM_001386153.1:c.4948_4950del | NP_001373082.1:p.Glu1650del | |
| NM_001386154.1:c.4933_4935del | NP_001373083.1:p.Glu1645del | |
| NM_001386156.1:c.4906_4908del | NP_001373085.1:p.Glu1636del | |
| NM_001386157.1:c.4783_4785del | NP_001373086.1:p.Glu1595del | |
| NM_001386158.1:c.4684_4686del | NP_001373087.1:p.Glu1562del | |
| NM_001386160.1:c.5011_5013del | NP_001373089.1:p.Glu1671del | |
| NM_001386161.1:c.5101_5103del | NP_001373090.1:p.Glu1701del | |
| NM_001386162.1:c.4981_4983del | NP_001373091.1:p.Glu1661del | |
| NM_001386166.1:c.7822_7824del | NP_001373095.1:p.Glu2608del | |
| NM_001386167.1:c.1567_1569del | NP_001373096.1:p.Glu523del | |
| NM_001386174.1:c.11563_11565del | NP_001373103.1:p.Glu3855del | |
| NM_001386175.1:c.11539_11541del | NP_001373104.1:p.Glu3847del | |
| NM_001386186.2:c.5152_5154del | NP_001373115.1:p.Glu1718del | |
| NM_001386187.2:c.5032_5034del | NP_001373116.1:p.Glu1678del | |
| NM_020977.5:c.5167_5169del | NP_066187.2:p.Glu1723del |