Linked Data
ClinVar Variation Id:
1247896
ClinVar RCV Id:
RCV001644348
dbSNP Id:
rs201464641
gnomAD v2:
1-204159541-CG-C
gnomAD v3:
1-204190413-CG-C
gnomAD v4:
1-204190413-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190414del , CM000663.2:g.204190414del | GRCh38 |
| NC_000001.10:g.204159542del , CM000663.1:g.204159542del | GRCh37 |
| NC_000001.9:g.202426165del | NCBI36 |
| NG_032151.1:g.11078del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.*70del MANE Select | ENSP00000356162.4:n.*70del | |
| ENST00000367194.4:c.*70del | ENSP00000356162.4:n.*70del | |
| NM_002256.3:c.*70del | NP_002247.3:n.*70del | |
| XM_011509525.1:c.*70del | XP_011507827.1:n.*70del | |
| NM_002256.4:c.*70del MANE Select | NP_002247.3:n.*70del |