Linked Data
ClinVar Variation Id:
449581
ClinVar RCV Id:
RCV000518974
dbSNP Id:
rs767762692
ExAC:
15:31294726 AGTCT / A
gnomAD v2:
15-31294726-AGTCT-A
gnomAD v3:
15-31002523-AGTCT-A
gnomAD v4:
15-31002523-AGTCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.31002532_31002535del , CM000677.2:g.31002532_31002535del | GRCh38 |
| NC_000015.9:g.31294735_31294738del , CM000677.1:g.31294735_31294738del | GRCh37 |
| NC_000015.8:g.29082027_29082030del | NCBI36 |
| NG_016453.1:g.104195_104198del | |
| NG_016453.2:g.163747_163750del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711434.1:c.4125_4128del | ENSP00000518752.1:p.Asp1376LeufsTer11 | |
| ENST00000397795.7:c.4107_4110del | ENSP00000380897.2:p.Asp1370LeufsTer11 | |
| ENST00000558445.6:c.4224_4227del | ENSP00000452946.2:p.Asp1409LeufsTer11 | |
| ENST00000559177.6:c.1569_1572del | ENSP00000453477.2:p.Asp524LeufsTer11 | |
| ENST00000256552.11:c.4173_4176del MANE Select | ENSP00000256552.7:p.Asp1392LeufsTer11 | |
| ENST00000256552.10:c.4173_4176del | ENSP00000256552.6:p.Asp1392LeufsTer11 | |
| ENST00000397795.6:c.4107_4110del | ENSP00000380897.2:p.Asp1370LeufsTer11 | |
| ENST00000542188.5:c.4224_4227del | ENSP00000437849.1:p.Asp1409LeufsTer11 | |
| ENST00000558445.5:c.4107_4110del | ENSP00000452946.1:p.Asp1370LeufsTer11 | |
| ENST00000558768.5:c.3876_3879del | ENSP00000453119.2:p.Asp1293LeufsTer11 | |
| ENST00000559177.5:c.1452_1455del | ENSP00000453477.1:p.Asp485LeufsTer11 | |
| ENST00000560801.5:c.3749_3752del | ENSP00000453644.2:n.3749_3752del | |
| NM_001252020.1:c.4224_4227del | NP_001238949.1:p.Asp1409LeufsTer11 | |
| NM_001252024.1:c.4173_4176del | NP_001238953.1:p.Asp1392LeufsTer11 | |
| NM_002420.5:c.4107_4110del | NP_002411.3:p.Asp1370LeufsTer11 | |
| NM_001252024.2:c.4173_4176del MANE Select | NP_001238953.1:p.Asp1392LeufsTer11 | |
| NM_002420.6:c.4107_4110del | NP_002411.3:p.Asp1370LeufsTer11 | |
| NM_001252020.2:c.4224_4227del | NP_001238949.1:p.Asp1409LeufsTer11 |