Linked Data
ClinVar Variation Id:
934203
ClinVar RCV Id:
RCV001202548
dbSNP Id:
rs752782000
ExAC:
11:102980304 AT / A
gnomAD v2:
11-102980304-AT-A
gnomAD v3:
11-103109575-AT-A
gnomAD v4:
11-103109575-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103109576del , CM000673.2:g.103109576del | GRCh38 |
| NC_000011.9:g.102980305del , CM000673.1:g.102980305del | GRCh37 |
| NC_000011.8:g.102485515del | NCBI36 |
| NG_016423.1:g.5146del | |
| NG_016423.2:g.5146del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.2del MANE Plus Clinical | ENSP00000497174.1:p.Met1ArgfsTer23 | |
| ENST00000375735.7:c.2del MANE Select | ENSP00000364887.2:p.Met1ArgfsTer23 | |
| ENST00000648198.1:c.2del | ENSP00000497329.1:p.Met1ArgfsTer23 | |
| ENST00000649323.1:c.2del | ENSP00000497581.1:p.Met1ArgfsTer23 | |
| ENST00000650373.1:c.2del | ENSP00000497174.1:p.Met1ArgfsTer23 | |
| ENST00000334267.11:c.2del | ENSP00000334021.7:p.Met1ArgfsTer23 | |
| ENST00000375735.6:c.2del | ENSP00000364887.2:p.Met1ArgfsTer23 | |
| ENST00000398093.7:c.2del | ENSP00000381167.3:p.Met1ArgfsTer23 | |
| NM_001080463.1:c.2del | NP_001073932.1:p.Met1ArgfsTer23 | |
| NM_001377.2:c.2del | NP_001368.2:p.Met1ArgfsTer23 | |
| XM_006718903.2:c.2del | XP_006718966.1:p.Met1ArgfsTer23 | |
| XM_017018291.1:c.2del | XP_016873780.1:p.Met1ArgfsTer23 | |
| XM_017018293.1:c.2del | XP_016873782.1:p.Met1ArgfsTer23 | |
| NM_001377.3:c.2del MANE Select | NP_001368.2:p.Met1ArgfsTer23 | |
| NM_001080463.2:c.2del MANE Plus Clinical | NP_001073932.1:p.Met1ArgfsTer23 |