Linked Data
ClinVar Variation Id:
1075110
ClinVar RCV Id:
RCV001388622
dbSNP Id:
rs2137113019
gnomAD v4:
12-101761740-TTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761744_101761745del , CM000674.2:g.101761744_101761745del | GRCh38 |
| NC_000012.11:g.102155522_102155523del , CM000674.1:g.102155522_102155523del | GRCh37 |
| NC_000012.10:g.100679653_100679654del | NCBI36 |
| NG_021243.1:g.74126_74127del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2737_2738del MANE Select | ENSP00000299314.7:p.Gln913IlefsTer6 | |
| ENST00000299314.11:c.2737_2738del | ENSP00000299314.7:p.Gln913IlefsTer6 | |
| NM_024312.4:c.2737_2738del | NP_077288.2:p.Gln913IlefsTer6 | |
| XM_006719593.2:c.2737_2738del | XP_006719656.1:p.Gln913IlefsTer6 | |
| XM_011538731.1:c.2656_2657del | XP_011537033.1:p.Gln886IlefsTer6 | |
| XM_006719593.3:c.2737_2738del | XP_006719656.1:p.Gln913IlefsTer6 | |
| XM_011538731.2:c.2656_2657del | XP_011537033.1:p.Gln886IlefsTer6 | |
| XM_017019961.1:c.2521_2522del | XP_016875450.1:p.Gln841IlefsTer6 | |
| XM_017019962.2:c.1510_1511del | XP_016875451.1:p.Gln504IlefsTer6 | |
| NM_024312.5:c.2737_2738del MANE Select | NP_077288.2:p.Gln913IlefsTer6 |