Linked Data
gnomAD v4:
1-17401342-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401344_17401345del , CM000663.2:g.17401344_17401345del | GRCh38 |
| NC_000001.10:g.17727840_17727841del , CM000663.1:g.17727840_17727841del | GRCh37 |
| NC_000001.9:g.17600427_17600428del | NCBI36 |
| NG_032943.1:g.34099_34100del | |
| NG_032943.2:g.34099_34100del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1991_1992del MANE Select | ENSP00000483125.1:p.Phe664Ter | |
| NM_207421.4:c.1991_1992del MANE Select | NP_997304.3:p.Phe664Ter |