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:
2-229787515-TCCAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.229787516_229787519del , CM000664.2:g.229787516_229787519del | GRCh38 |
| NC_000002.11:g.230652232_230652235del , CM000664.1:g.230652232_230652235del | GRCh37 |
| NC_000002.10:g.230360476_230360479del | NCBI36 |
| NG_053017.1:g.140716_140719del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430954.6:c.4804_4807del | ENSP00000389827.2:p.Leu1602IlefsTer7 | |
| ENST00000453485.2:c.4813_4816del | ENSP00000400967.2:p.Leu1605IlefsTer7 | |
| ENST00000704577.1:c.4981_4984del | ENSP00000515952.1:p.Leu1661IlefsTer7 | |
| ENST00000704578.1:c.4840_4843del | ENSP00000515953.1:p.Leu1614IlefsTer7 | |
| ENST00000704579.1:c.*3145_*3148del | ENSP00000515954.1:n.*3145_*3148del | |
| ENST00000704580.1:c.4855_4858del | ENSP00000515955.1:p.Leu1619IlefsTer7 | |
| ENST00000704581.1:c.4969_4972del | ENSP00000515956.1:p.Leu1657IlefsTer7 | |
| ENST00000704582.1:c.635_638del | ||
| ENST00000704583.1:c.*2465_*2468del | ENSP00000515958.1:n.*2465_*2468del | |
| ENST00000704584.1:c.4704_4707del | ||
| ENST00000704585.1:c.4759_4762del | ENSP00000515960.1:p.Leu1587IlefsTer7 | |
| ENST00000675423.1:c.4981_4984del | ENSP00000502768.1:p.Leu1661IlefsTer7 | |
| ENST00000675453.1:c.4984_4987del | ENSP00000502271.1:p.Leu1662IlefsTer7 | |
| ENST00000675903.1:c.4981_4984del MANE Select | ENSP00000502713.1:p.Leu1661IlefsTer7 | |
| ENST00000283943.9:c.4756_4759del | ENSP00000283943.4:p.Leu1586IlefsTer7 | |
| ENST00000389044.8:c.4900_4903del | ENSP00000373696.4:p.Leu1634IlefsTer7 | |
| ENST00000389045.7:c.3946_3949del | ENSP00000373697.3:p.Leu1316IlefsTer7 | |
| NM_001284214.1:c.4900_4903del | NP_001271143.1:p.Leu1634IlefsTer7 | |
| NM_001284215.1:c.4855_4858del | NP_001271144.1:p.Leu1619IlefsTer7 | |
| NM_001284216.1:c.3946_3949del | NP_001271145.1:p.Leu1316IlefsTer7 | |
| NM_004238.2:c.4756_4759del | NP_004229.1:p.Leu1586IlefsTer7 | |
| XM_005246954.3:c.4984_4987del | XP_005247011.1:p.Leu1662IlefsTer7 | |
| XM_005246955.3:c.4984_4987del | XP_005247012.1:p.Leu1662IlefsTer7 | |
| XM_005246956.3:c.4981_4984del | XP_005247013.1:p.Leu1661IlefsTer7 | |
| XM_005246957.3:c.4969_4972del | XP_005247014.1:p.Leu1657IlefsTer7 | |
| XM_005246958.3:c.4903_4906del | XP_005247015.1:p.Leu1635IlefsTer7 | |
| XM_005246960.3:c.4897_4900del | XP_005247017.1:p.Leu1633IlefsTer7 | |
| XM_005246961.2:c.4858_4861del | XP_005247018.1:p.Leu1620IlefsTer7 | |
| XM_005246962.3:c.4855_4858del | XP_005247019.1:p.Leu1619IlefsTer7 | |
| XM_005246963.3:c.4984_4987del | XP_005247020.1:p.Leu1662IlefsTer7 | |
| XM_006712852.2:c.4858_4861del | XP_006712915.1:p.Leu1620IlefsTer7 | |
| XM_006712853.2:c.4774_4777del | XP_006712916.1:p.Leu1592IlefsTer7 | |
| XM_011512180.1:c.4984_4987del | XP_011510482.1:p.Leu1662IlefsTer7 | |
| XM_011512181.1:c.4984_4987del | XP_011510483.1:p.Leu1662IlefsTer7 | |
| XM_011512182.1:c.4984_4987del | XP_011510484.1:p.Leu1662IlefsTer7 | |
| XM_011512183.1:c.4858_4861del | XP_011510485.1:p.Leu1620IlefsTer7 | |
| XM_011512184.1:c.4984_4987del | XP_011510486.1:p.Leu1662IlefsTer7 | |
| NM_001284215.2:c.4855_4858del | NP_001271144.1:p.Leu1619IlefsTer7 | |
| NM_001348315.1:c.4900_4903del | NP_001335244.1:p.Leu1634IlefsTer7 | |
| NM_001348316.1:c.4855_4858del | NP_001335245.1:p.Leu1619IlefsTer7 | |
| NM_001348317.1:c.4840_4843del | NP_001335246.1:p.Leu1614IlefsTer7 | |
| NM_001348318.1:c.4840_4843del | NP_001335247.1:p.Leu1614IlefsTer7 | |
| NM_001348319.1:c.4966_4969del | NP_001335248.1:p.Leu1656IlefsTer7 | |
| NM_001348320.1:c.4966_4969del | NP_001335249.1:p.Leu1656IlefsTer7 | |
| NM_001348321.1:c.4969_4972del | NP_001335250.1:p.Leu1657IlefsTer7 | |
| NM_001348322.1:c.4981_4984del | NP_001335251.1:p.Leu1661IlefsTer7 | |
| NM_001348323.1:c.4981_4984del | NP_001335252.1:p.Leu1661IlefsTer7 | |
| NM_001348324.1:c.4981_4984del | NP_001335253.1:p.Leu1661IlefsTer7 | |
| NM_001348325.1:c.4981_4984del | NP_001335254.1:p.Leu1661IlefsTer7 | |
| NM_001348326.1:c.4981_4984del | NP_001335255.1:p.Leu1661IlefsTer7 | |
| NM_001348327.1:c.4981_4984del | NP_001335256.1:p.Leu1661IlefsTer7 | |
| NM_001348328.1:c.4984_4987del | NP_001335257.1:p.Leu1662IlefsTer7 | |
| NM_001348329.1:c.4984_4987del | NP_001335258.1:p.Leu1662IlefsTer7 | |
| NM_001348330.1:c.4984_4987del | NP_001335259.1:p.Leu1662IlefsTer7 | |
| NM_001348331.1:c.4759_4762del | NP_001335260.1:p.Leu1587IlefsTer7 | |
| NM_001348332.1:c.4879_4882del | NP_001335261.1:p.Leu1627IlefsTer7 | |
| NM_001348333.1:c.4903_4906del | NP_001335262.1:p.Leu1635IlefsTer7 | |
| XM_005246961.4:c.4858_4861del | XP_005247018.1:p.Leu1620IlefsTer7 | |
| XM_017005283.2:c.4885_4888del | XP_016860772.1:p.Leu1629IlefsTer7 | |
| XM_017005289.2:c.4816_4819del | XP_016860778.1:p.Leu1606IlefsTer7 | |
| XM_017005290.2:c.4813_4816del | XP_016860779.1:p.Leu1605IlefsTer7 | |
| XM_024453223.1:c.5056_5059del | XP_024308991.1:p.Leu1686IlefsTer7 | |
| XM_024453224.1:c.5056_5059del | XP_024308992.1:p.Leu1686IlefsTer7 | |
| XM_024453225.1:c.5056_5059del | XP_024308993.1:p.Leu1686IlefsTer7 | |
| XM_024453226.1:c.5056_5059del | XP_024308994.1:p.Leu1686IlefsTer7 | |
| XM_024453227.1:c.5056_5059del | XP_024308995.1:p.Leu1686IlefsTer7 | |
| XM_024453228.1:c.5056_5059del | XP_024308996.1:p.Leu1686IlefsTer7 | |
| XM_024453229.1:c.5053_5056del | XP_024308997.1:p.Leu1685IlefsTer7 | |
| XM_024453230.1:c.5053_5056del | XP_024308998.1:p.Leu1685IlefsTer7 | |
| XM_024453231.1:c.4975_4978del | XP_024308999.1:p.Leu1659IlefsTer7 | |
| XM_024453232.1:c.4972_4975del | XP_024309000.1:p.Leu1658IlefsTer7 | |
| XM_024453233.1:c.4969_4972del | XP_024309001.1:p.Leu1657IlefsTer7 | |
| XM_024453234.1:c.4969_4972del | XP_024309002.1:p.Leu1657IlefsTer7 | |
| XM_024453235.1:c.4969_4972del | XP_024309003.1:p.Leu1657IlefsTer7 | |
| XM_024453236.1:c.4930_4933del | XP_024309004.1:p.Leu1644IlefsTer7 | |
| XM_024453237.1:c.4930_4933del | XP_024309005.1:p.Leu1644IlefsTer7 | |
| XM_024453238.1:c.4930_4933del | XP_024309006.1:p.Leu1644IlefsTer7 | |
| XM_024453239.1:c.4930_4933del | XP_024309007.1:p.Leu1644IlefsTer7 | |
| XM_024453240.1:c.4930_4933del | XP_024309008.1:p.Leu1644IlefsTer7 | |
| XM_024453241.1:c.4927_4930del | XP_024309009.1:p.Leu1643IlefsTer7 | |
| XM_024453242.1:c.4843_4846del | XP_024309010.1:p.Leu1615IlefsTer7 | |
| XM_024453243.1:c.4774_4777del | XP_024309011.1:p.Leu1592IlefsTer7 | |
| NM_001284214.2:c.4900_4903del | NP_001271143.1:p.Leu1634IlefsTer7 | |
| NM_001284216.2:c.3946_3949del | NP_001271145.1:p.Leu1316IlefsTer7 | |
| NM_001348315.2:c.4900_4903del | NP_001335244.1:p.Leu1634IlefsTer7 | |
| NM_001348316.2:c.4855_4858del | NP_001335245.1:p.Leu1619IlefsTer7 | |
| NM_001348318.2:c.4840_4843del | NP_001335247.1:p.Leu1614IlefsTer7 | |
| NM_001348320.2:c.4966_4969del | NP_001335249.1:p.Leu1656IlefsTer7 | |
| NM_001348323.2:c.4981_4984del | NP_001335252.1:p.Leu1661IlefsTer7 | |
| NM_001348324.2:c.4981_4984del | NP_001335253.1:p.Leu1661IlefsTer7 | |
| NM_001348325.2:c.4981_4984del | NP_001335254.1:p.Leu1661IlefsTer7 | |
| NM_001348326.2:c.4981_4984del | NP_001335255.1:p.Leu1661IlefsTer7 | |
| NM_001348327.2:c.4981_4984del | NP_001335256.1:p.Leu1661IlefsTer7 | |
| NM_001348329.2:c.4984_4987del | NP_001335258.1:p.Leu1662IlefsTer7 | |
| NM_001348330.2:c.4984_4987del | NP_001335259.1:p.Leu1662IlefsTer7 | |
| NM_004238.3:c.4756_4759del | NP_004229.1:p.Leu1586IlefsTer7 | |
| NM_001348323.3:c.4981_4984del MANE Select | NP_001335252.1:p.Leu1661IlefsTer7 |