Linked Data
dbSNP Id:
rs1670690602
gnomAD v4:
1-160882134-AC-A
COSMIC:
COSM1335557
MyVariant Identifiers:
chr1:g.160851925del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882139del , CM000663.2:g.160882139del | GRCh38 |
| NC_000001.10:g.160851929del , CM000663.1:g.160851929del | GRCh37 |
| NC_000001.9:g.159118553del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.227del MANE Select | ENSP00000323587.3:p.Gly76ValfsTer? | |
| ENST00000326245.3:c.227del | ENSP00000323587.3:p.Gly76ValfsTer? | |
| ENST00000464077.1:n.161del | ||
| NM_017625.2:c.227del | NP_060095.2:p.Gly76ValfsTer? | |
| NM_017625.3:c.227del MANE Select | NP_060095.2:p.Gly76ValfsTer? |