Linked Data
ClinVar Variation Id:
375634
dbSNP Id:
rs1057519595
gnomAD v3:
12-49050593-TA-T
gnomAD v4:
12-49050593-TA-T
PubMed:
PMID:23913813
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49050594del , CM000674.2:g.49050594del | GRCh38 |
| NC_000012.11:g.49444377del , CM000674.1:g.49444377del | GRCh37 |
| NC_000012.10:g.47730644del | NCBI36 |
| NG_027827.1:g.9731del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683543.2:c.2994del | ENSP00000506726.1:p.Met999Ter | |
| ENST00000685166.1:c.2994del | ENSP00000509386.1:p.Met999Ter | |
| ENST00000692637.1:c.2994del | ENSP00000509666.1:p.Met999Ter | |
| ENST00000301067.12:c.2994del MANE Select | ENSP00000301067.7:p.Met999Ter | |
| ENST00000301067.11:c.2994del | ENSP00000301067.7:p.Met999Ter | |
| NM_003482.3:c.2994del | NP_003473.3:p.Met999Ter | |
| XM_005269162.3:c.2994del | XP_005269219.1:p.Met999Ter | |
| XM_006719614.2:c.2994del | XP_006719677.1:p.Met999Ter | |
| XM_006719616.2:c.2994del | XP_006719679.1:p.Met999Ter | |
| XM_011538770.1:c.2994del | XP_011537072.1:p.Met999Ter | |
| XM_011538771.1:c.2994del | XP_011537073.1:p.Met999Ter | |
| XM_011538772.1:c.2994del | XP_011537074.1:p.Met999Ter | |
| XM_011538773.1:c.2994del | XP_011537075.1:p.Met999Ter | |
| XM_011538774.1:c.2994del | XP_011537076.1:p.Met999Ter | |
| XM_011538775.1:c.2994del | XP_011537077.1:p.Met999Ter | |
| XM_011538776.1:c.2994del | XP_011537078.1:p.Met999Ter | |
| XR_944740.1:n.5314del | ||
| XM_005269162.4:c.2994del | XP_005269219.1:p.Met999Ter | |
| XM_006719614.4:c.2994del | XP_006719677.1:p.Met999Ter | |
| XM_006719616.3:c.2994del | XP_006719679.1:p.Met999Ter | |
| XM_011538770.2:c.2994del | XP_011537072.1:p.Met999Ter | |
| XM_011538771.2:c.2994del | XP_011537073.1:p.Met999Ter | |
| XM_011538772.2:c.2994del | XP_011537074.1:p.Met999Ter | |
| XM_011538773.2:c.2994del | XP_011537075.1:p.Met999Ter | |
| XM_011538774.2:c.2994del | XP_011537076.1:p.Met999Ter | |
| XM_011538776.2:c.2994del | XP_011537078.1:p.Met999Ter | |
| XR_001748874.1:n.4303del | ||
| NM_003482.4:c.2994del MANE Select | NP_003473.3:p.Met999Ter |