Linked Data
gnomAD v4:
1-17401321-C-CAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401322_17401323dup , CM000663.2:g.17401322_17401323dup | GRCh38 |
| NC_000001.10:g.17727818_17727819dup , CM000663.1:g.17727818_17727819dup | GRCh37 |
| NC_000001.9:g.17600405_17600406dup | NCBI36 |
| NG_032943.1:g.34077_34078dup | |
| NG_032943.2:g.34077_34078dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1969_1970dup MANE Select | ENSP00000483125.1:p.Cys658SerfsTer12 | |
| NM_207421.4:c.1969_1970dup MANE Select | NP_997304.3:p.Cys658SerfsTer12 |