Linked Data
gnomAD v4:
1-17401326-G-GCAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401328_17401330dup , CM000663.2:g.17401328_17401330dup | GRCh38 |
| NC_000001.10:g.17727824_17727826dup , CM000663.1:g.17727824_17727826dup | GRCh37 |
| NC_000001.9:g.17600411_17600413dup | NCBI36 |
| NG_032943.1:g.34083_34085dup | |
| NG_032943.2:g.34083_34085dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1975_1977dup MANE Select | ENSP00000483125.1:p.Thr659_Phe660insThr | |
| NM_207421.4:c.1975_1977dup MANE Select | NP_997304.3:p.Thr659_Phe660insThr |