Linked Data
ClinVar Variation Id:
617772
dbSNP Id:
rs1194793421
gnomAD v3:
2-47414417-AG-A
gnomAD v4:
2-47414417-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47414419del , CM000664.2:g.47414419del | GRCh38 |
| NC_000002.11:g.47641558del , CM000664.1:g.47641558del | GRCh37 |
| NC_000002.10:g.47495062del | NCBI36 |
| NG_007110.2:g.16296del , LRG_218:g.16296del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.942+1del | ||
| ENST00000233146.7:c.942+1del | ||
| ENST00000543555.6:c.744+1del | ||
| ENST00000644092.1:c.942+1del | ||
| ENST00000645339.1:c.942+1del | ||
| ENST00000645506.1:c.942+1del | ||
| ENST00000646415.1:c.942+1del | ||
| ENST00000233146.6:c.942+1del | ||
| ENST00000406134.5:c.942+1del | ||
| ENST00000543555.5:c.744+1del | ||
| ENST00000610696.4:c.942+1del | ||
| ENST00000613514.4:c.942+1del | ||
| ENST00000617333.3:c.942+1del | ||
| ENST00000617938.4:c.942+1del | ||
| ENST00000621359.2:c.942+1del | ||
| NM_000251.2:c.942+1del , LRG_218t1:c.942+1del | ||
| NM_001258281.1:c.744+1del | ||
| XM_005264332.2:c.942+1del | ||
| XM_011532867.1:c.942+1del | ||
| XR_939685.1:n.1014+1del | ||
| XM_005264332.4:c.942+1del | ||
| XM_011532867.2:c.942+1del | ||
| XR_001738747.2:n.1004+1del | ||
| XR_939685.2:n.1004+1del | ||
| NM_000251.3:c.942+1del |