Linked Data
ClinVar Variation Id:
1499222
ClinVar RCV Id:
RCV002010508
dbSNP Id:
rs756523952
ExAC:
4:55592044 AGTGGAT / A
gnomAD v2:
4-55592044-AGTGGAT-A
gnomAD v4:
4-54725878-AGTGGAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54725882_54725887del , CM000666.2:g.54725882_54725887del | GRCh38 |
| NC_000004.11:g.55592048_55592053del , CM000666.1:g.55592048_55592053del | GRCh37 |
| NC_000004.10:g.55286805_55286810del | NCBI36 |
| NG_007456.1:g.72888_72893del , LRG_307:g.72888_72893del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412167.7:c.1375_1380del | ENSP00000390987.3:p.Asp459_Val460del | |
| ENST00000685269.1:n.1450_1455del | ||
| ENST00000685816.1:c.310_315del | ENSP00000508749.1:p.Asp104_Val105del | |
| ENST00000686011.1:c.1372_1377del | ENSP00000509704.1:p.Asp458_Val459del | |
| ENST00000687109.1:c.1375_1380del | ENSP00000509371.1:p.Asp459_Val460del | |
| ENST00000687208.1:n.1787_1792del | ||
| ENST00000687246.1:c.1372_1377del | ENSP00000509114.1:p.Asp458_Val459del | |
| ENST00000687265.1:n.1542_1547del | ||
| ENST00000687295.1:c.1372_1377del | ENSP00000509450.1:p.Asp458_Val459del | |
| ENST00000689832.1:c.1375_1380del | ENSP00000509084.1:p.Asp459_Val460del | |
| ENST00000689994.1:c.862_867del | ENSP00000509156.1:p.Asp288_Val289del | |
| ENST00000690543.1:c.1375_1380del | ENSP00000508831.1:p.Asp459_Val460del | |
| ENST00000690917.1:n.1590_1595del | ||
| ENST00000691361.1:n.294_299del | ||
| ENST00000692783.1:c.1372_1377del | ENSP00000508733.1:p.Asp458_Val459del | |
| ENST00000692991.1:n.1481_1486del | ||
| ENST00000288135.6:c.1372_1377del MANE Select | ENSP00000288135.6:p.Asp458_Val459del | |
| ENST00000288135.5:c.1372_1377del | ENSP00000288135.5:p.Asp458_Val459del | |
| ENST00000412167.6:c.1372_1377del | ENSP00000390987.2:p.Asp458_Val459del | |
| NM_000222.2:c.1372_1377del , LRG_307t1:c.1372_1377del | NP_000213.1:p.Asp458_Val459del | |
| NM_001093772.1:c.1372_1377del | NP_001087241.1:p.Asp458_Val459del | |
| XM_005265740.1:c.1375_1380del | XP_005265797.1:p.Asp459_Val460del | |
| XM_005265741.1:c.1375_1380del | XP_005265798.1:p.Asp459_Val460del | |
| XM_005265742.1:c.1375_1380del | XP_005265799.1:p.Asp459_Val460del | |
| XM_005265742.3:c.1375_1380del | XP_005265799.1:p.Asp459_Val460del | |
| XM_017008178.1:c.1372_1377del | XP_016863667.1:p.Asp458_Val459del | |
| XM_017008179.1:c.1375_1380del | XP_016863668.1:p.Asp459_Val460del | |
| XM_017008180.1:c.1372_1377del | XP_016863669.1:p.Asp458_Val459del | |
| NM_000222.3:c.1372_1377del MANE Select | NP_000213.1:p.Asp458_Val459del | |
| NM_001093772.2:c.1372_1377del | NP_001087241.1:p.Asp458_Val459del | |
| NM_001385284.1:c.1375_1380del | NP_001372213.1:p.Asp459_Val460del | |
| NM_001385285.1:c.1372_1377del | NP_001372214.1:p.Asp458_Val459del | |
| NM_001385286.1:c.1372_1377del | NP_001372215.1:p.Asp458_Val459del | |
| NM_001385288.1:c.1375_1380del | NP_001372217.1:p.Asp459_Val460del | |
| NM_001385290.1:c.1375_1380del | NP_001372219.1:p.Asp459_Val460del | |
| NM_001385292.1:c.1375_1380del | NP_001372221.1:p.Asp459_Val460del |