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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45331351_45331354delinsGGGG , CM000663.2:g.45331351_45331354delinsGGGG | GRCh38 |
| NC_000001.10:g.45797023_45797026delinsGGGG , CM000663.1:g.45797023_45797026delinsGGGG | GRCh37 |
| NC_000001.9:g.45569610_45569613delinsGGGG | NCBI36 |
| NG_008189.1:g.14117_14120delinsCCCC , LRG_220:g.14117_14120delinsCCCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412971.6:c.856-20_856-17delinsCCCC | ENSP00000410263.2:n.856-20_856-17delinsCCCC | |
| ENST00000435155.2:c.1273-20_1273-17delinsCCCC | ENSP00000403655.2:n.1273-20_1273-17delinsCCCC | |
| ENST00000467459.6:c.*102-20_*102-17delinsCCCC | ENSP00000435889.2:n.*102-20_*102-17delinsCCCC | |
| ENST00000483127.2:c.1258-20_1258-17delinsCCCC | ENSP00000436469.2:n.1258-20_1258-17delinsCCCC | |
| ENST00000485271.6:c.1240-20_1240-17delinsCCCC | ENSP00000431264.2:n.1240-20_1240-17delinsCCCC | |
| ENST00000529892.6:c.1093-20_1093-17delinsCCCC | ENSP00000432528.2:n.1093-20_1093-17delinsCCCC | |
| ENST00000533178.6:c.*569-20_*569-17delinsCCCC | ENSP00000436430.2:n.*569-20_*569-17delinsCCCC | |
| ENST00000672314.2:c.1240-20_1240-17delinsCCCC | ENSP00000500828.2:n.1240-20_1240-17delinsCCCC | |
| ENST00000710952.2:c.1324-20_1324-17delinsCCCC MANE Plus Clinical | ENSP00000518552.2:n.1324-20_1324-17delinsCCCC | |
| ENST00000672818.3:c.1315-20_1315-17delinsCCCC | ENSP00000500891.1:n.1315-20_1315-17delinsCCCC | |
| ENST00000456914.7:c.1240-20_1240-17delinsCCCC MANE Select | ENSP00000407590.2:n.1240-20_1240-17delinsCCCC | |
| ENST00000671898.1:c.1828-20_1828-17delinsCCCC | ENSP00000499896.1:n.1828-20_1828-17delinsCCCC | |
| ENST00000672011.1:c.*569-20_*569-17delinsCCCC | ENSP00000500418.1:n.*569-20_*569-17delinsCCCC | |
| ENST00000672314.1:c.1240-20_1240-17delinsCCCC | ENSP00000500828.1:n.1240-20_1240-17delinsCCCC | |
| ENST00000672593.1:c.*1466-20_*1466-17delinsCCCC | ENSP00000500455.1:n.*1466-20_*1466-17delinsCCCC | |
| ENST00000672818.2:c.1315-20_1315-17delinsCCCC | ENSP00000500891.1:n.1315-20_1315-17delinsCCCC | |
| ENST00000673134.1:c.*937-20_*937-17delinsCCCC | ENSP00000500526.1:n.*937-20_*937-17delinsCCCC | |
| ENST00000354383.10:c.1243-20_1243-17delinsCCCC | ENSP00000346354.6:n.1243-20_1243-17delinsCCCC | |
| ENST00000355498.6:c.1240-20_1240-17delinsCCCC | ENSP00000347685.2:n.1240-20_1240-17delinsCCCC | |
| ENST00000372098.7:c.1315-20_1315-17delinsCCCC | ENSP00000361170.3:n.1315-20_1315-17delinsCCCC | |
| ENST00000372104.5:c.1240-20_1240-17delinsCCCC | ENSP00000361176.1:n.1240-20_1240-17delinsCCCC | |
| ENST00000372110.7:c.1285-20_1285-17delinsCCCC | ENSP00000361182.3:n.1285-20_1285-17delinsCCCC | |
| ENST00000372115.7:c.1282-20_1282-17delinsCCCC | ENSP00000361187.3:n.1282-20_1282-17delinsCCCC | |
| ENST00000448481.5:c.1273-20_1273-17delinsCCCC | ENSP00000409718.1:n.1273-20_1273-17delinsCCCC | |
| ENST00000450313.5:c.1324-20_1324-17delinsCCCC | ENSP00000408176.1:n.1324-20_1324-17delinsCCCC | |
| ENST00000456914.6:c.1240-20_1240-17delinsCCCC | ENSP00000407590.2:n.1240-20_1240-17delinsCCCC | |
| ENST00000467459.5:c.657-20_657-17delinsCCCC | ENSP00000435889.1:n.657-20_657-17delinsCCCC | |
| ENST00000475516.5:c.*1053-20_*1053-17delinsCCCC | ENSP00000433843.1:n.*1053-20_*1053-17delinsCCCC | |
| ENST00000481571.5:c.*1053-20_*1053-17delinsCCCC | ENSP00000436597.1:n.*1053-20_*1053-17delinsCCCC | |
| ENST00000482094.5:n.561-20_561-17delinsCCCC | ||
| ENST00000488731.6:c.325-20_325-17delinsCCCC | ENSP00000432330.1:n.325-20_325-17delinsCCCC | |
| ENST00000528013.6:c.1282-20_1282-17delinsCCCC | ENSP00000433130.2:n.1282-20_1282-17delinsCCCC | |
| ENST00000529892.5:c.315-20_315-17delinsCCCC | ||
| ENST00000529984.5:c.325-20_325-17delinsCCCC | ENSP00000437093.1:n.325-20_325-17delinsCCCC | |
| ENST00000531105.5:c.116-1917_116-1914delinsCCCC | ENSP00000431292.1:n.116-1917_116-1914delinsCCCC | |
| ENST00000533178.5:c.869-20_869-17delinsCCCC | ENSP00000436430.1:n.869-20_869-17delinsCCCC | |
| NM_001048171.1:c.1282-20_1282-17delinsCCCC | NP_001041636.1:n.1282-20_1282-17delinsCCCC | |
| NM_001048172.1:c.1243-20_1243-17delinsCCCC | NP_001041637.1:n.1243-20_1243-17delinsCCCC | |
| NM_001048173.1:c.1240-20_1240-17delinsCCCC | NP_001041638.1:n.1240-20_1240-17delinsCCCC | |
| NM_001048174.1:c.1240-20_1240-17delinsCCCC | NP_001041639.1:n.1240-20_1240-17delinsCCCC | |
| NM_001128425.1:c.1324-20_1324-17delinsCCCC , LRG_220t1:c.1324-20_1324-17delinsCCCC | NP_001121897.1:n.1324-20_1324-17delinsCCCC | |
| NM_001293190.1:c.1285-20_1285-17delinsCCCC | NP_001280119.1:n.1285-20_1285-17delinsCCCC | |
| NM_001293191.1:c.1273-20_1273-17delinsCCCC | NP_001280120.1:n.1273-20_1273-17delinsCCCC | |
| NM_001293192.1:c.964-20_964-17delinsCCCC | NP_001280121.1:n.964-20_964-17delinsCCCC | |
| NM_001293195.1:c.1240-20_1240-17delinsCCCC | NP_001280124.1:n.1240-20_1240-17delinsCCCC | |
| NM_001293196.1:c.964-20_964-17delinsCCCC | NP_001280125.1:n.964-20_964-17delinsCCCC | |
| NM_012222.2:c.1315-20_1315-17delinsCCCC | NP_036354.1:n.1315-20_1315-17delinsCCCC | |
| XM_011541497.1:c.1300-20_1300-17delinsCCCC | XP_011539799.1:n.1300-20_1300-17delinsCCCC | |
| XM_011541498.1:c.1282-20_1282-17delinsCCCC | XP_011539800.1:n.1282-20_1282-17delinsCCCC | |
| XM_011541499.1:c.1282-20_1282-17delinsCCCC | XP_011539801.1:n.1282-20_1282-17delinsCCCC | |
| XM_011541500.1:c.1282-20_1282-17delinsCCCC | XP_011539802.1:n.1282-20_1282-17delinsCCCC | |
| XM_011541501.1:c.1282-20_1282-17delinsCCCC | XP_011539803.1:n.1282-20_1282-17delinsCCCC | |
| XM_011541502.1:c.1282-20_1282-17delinsCCCC | XP_011539804.1:n.1282-20_1282-17delinsCCCC | |
| XM_011541503.1:c.1282-20_1282-17delinsCCCC | XP_011539805.1:n.1282-20_1282-17delinsCCCC | |
| XM_011541504.1:c.1273-20_1273-17delinsCCCC | XP_011539806.1:n.1273-20_1273-17delinsCCCC | |
| XM_011541505.1:c.862-20_862-17delinsCCCC | XP_011539807.1:n.862-20_862-17delinsCCCC | |
| XM_011541506.1:c.862-20_862-17delinsCCCC | XP_011539808.1:n.862-20_862-17delinsCCCC | |
| XM_011541507.1:c.853-20_853-17delinsCCCC | XP_011539809.1:n.853-20_853-17delinsCCCC | |
| XM_011541508.1:c.868-20_868-17delinsCCCC | XP_011539810.1:n.868-20_868-17delinsCCCC | |
| XR_946658.1:n.1371-20_1371-17delinsCCCC | ||
| NM_001350650.1:c.895-20_895-17delinsCCCC | NP_001337579.1:n.895-20_895-17delinsCCCC | |
| NM_001350651.1:c.895-20_895-17delinsCCCC | NP_001337580.1:n.895-20_895-17delinsCCCC | |
| NR_146882.1:n.1498-20_1498-17delinsCCCC | ||
| NR_146883.1:n.1312-20_1312-17delinsCCCC | ||
| XM_011541497.3:c.1300-20_1300-17delinsCCCC | XP_011539799.1:n.1300-20_1300-17delinsCCCC | |
| XM_011541500.3:c.1282-20_1282-17delinsCCCC | XP_011539802.1:n.1282-20_1282-17delinsCCCC | |
| XM_011541501.2:c.1282-20_1282-17delinsCCCC | XP_011539803.1:n.1282-20_1282-17delinsCCCC | |
| XM_011541502.2:c.1282-20_1282-17delinsCCCC | XP_011539804.1:n.1282-20_1282-17delinsCCCC | |
| XM_011541503.2:c.1282-20_1282-17delinsCCCC | XP_011539805.1:n.1282-20_1282-17delinsCCCC | |
| XM_011541504.2:c.1273-20_1273-17delinsCCCC | XP_011539806.1:n.1273-20_1273-17delinsCCCC | |
| XM_011541505.2:c.862-20_862-17delinsCCCC | XP_011539807.1:n.862-20_862-17delinsCCCC | |
| XM_011541506.2:c.862-20_862-17delinsCCCC | XP_011539808.1:n.862-20_862-17delinsCCCC | |
| XM_017001331.1:c.1282-20_1282-17delinsCCCC | XP_016856820.1:n.1282-20_1282-17delinsCCCC | |
| XM_017001332.1:c.1282-20_1282-17delinsCCCC | XP_016856821.1:n.1282-20_1282-17delinsCCCC | |
| XM_017001333.1:c.1282-20_1282-17delinsCCCC | XP_016856822.1:n.1282-20_1282-17delinsCCCC | |
| XM_017001334.1:c.1243-20_1243-17delinsCCCC | XP_016856823.1:n.1243-20_1243-17delinsCCCC | |
| XM_017001335.1:c.964-20_964-17delinsCCCC | XP_016856824.1:n.964-20_964-17delinsCCCC | |
| XM_017001336.1:c.895-20_895-17delinsCCCC | XP_016856825.1:n.895-20_895-17delinsCCCC | |
| XM_017001337.1:c.895-20_895-17delinsCCCC | XP_016856826.1:n.895-20_895-17delinsCCCC | |
| XM_024447244.1:c.895-20_895-17delinsCCCC | XP_024303012.1:n.895-20_895-17delinsCCCC | |
| XM_024447245.1:c.895-20_895-17delinsCCCC | XP_024303013.1:n.895-20_895-17delinsCCCC | |
| XM_024447248.1:c.853-20_853-17delinsCCCC | XP_024303016.1:n.853-20_853-17delinsCCCC | |
| XM_024447249.1:c.724-20_724-17delinsCCCC | XP_024303017.1:n.724-20_724-17delinsCCCC | |
| XM_024447250.1:c.724-20_724-17delinsCCCC | XP_024303018.1:n.724-20_724-17delinsCCCC | |
| XM_024447251.1:c.724-20_724-17delinsCCCC | XP_024303019.1:n.724-20_724-17delinsCCCC | |
| XR_001737190.1:n.1285-20_1285-17delinsCCCC | ||
| XR_001737192.1:n.1097-20_1097-17delinsCCCC | ||
| XR_002956643.1:n.1277-20_1277-17delinsCCCC | ||
| XR_002956644.1:n.1812-20_1812-17delinsCCCC | ||
| XR_946658.2:n.1385-20_1385-17delinsCCCC | ||
| NM_001048171.2:c.1240-20_1240-17delinsCCCC | NP_001041636.2:n.1240-20_1240-17delinsCCCC | |
| NM_001128425.2:c.1324-20_1324-17delinsCCCC MANE Plus Clinical | NP_001121897.1:n.1324-20_1324-17delinsCCCC | |
| NM_001048172.2:c.1243-20_1243-17delinsCCCC | NP_001041637.1:n.1243-20_1243-17delinsCCCC | |
| NM_001048173.2:c.1240-20_1240-17delinsCCCC | NP_001041638.1:n.1240-20_1240-17delinsCCCC | |
| NM_001048174.2:c.1240-20_1240-17delinsCCCC MANE Select | NP_001041639.1:n.1240-20_1240-17delinsCCCC | |
| NM_001293190.2:c.1285-20_1285-17delinsCCCC | NP_001280119.1:n.1285-20_1285-17delinsCCCC | |
| NM_001293191.2:c.1273-20_1273-17delinsCCCC | NP_001280120.1:n.1273-20_1273-17delinsCCCC | |
| NM_001293192.2:c.964-20_964-17delinsCCCC | NP_001280121.1:n.964-20_964-17delinsCCCC | |
| NM_001293195.2:c.1240-20_1240-17delinsCCCC | NP_001280124.1:n.1240-20_1240-17delinsCCCC | |
| NM_001293196.2:c.964-20_964-17delinsCCCC | NP_001280125.1:n.964-20_964-17delinsCCCC | |
| NM_001350650.2:c.895-20_895-17delinsCCCC | NP_001337579.1:n.895-20_895-17delinsCCCC | |
| NM_001350651.2:c.895-20_895-17delinsCCCC | NP_001337580.1:n.895-20_895-17delinsCCCC | |
| NM_012222.3:c.1315-20_1315-17delinsCCCC | NP_036354.1:n.1315-20_1315-17delinsCCCC | |
| NR_146882.2:n.1468-20_1468-17delinsCCCC | ||
| NR_146883.2:n.1317-20_1317-17delinsCCCC |