Linked Data
gnomAD v4:
17-63945486-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63945488dup , CM000679.2:g.63945488dup | GRCh38 |
| NC_000017.10:g.62022848dup , CM000679.1:g.62022848dup | GRCh37 |
| NC_000017.9:g.59376580dup | NCBI36 |
| NG_011699.1:g.32432dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.3593dup MANE Select | ENSP00000396320.1:p.Asp1199ArgfsTer10 | |
| ENST00000578147.5:c.3593dup | ENSP00000463963.1:p.Asp1199ArgfsTer10 | |
| NM_000334.4:c.3593dup MANE Select | NP_000325.4:p.Asp1199ArgfsTer10 | |
| XM_005257566.3:c.3593dup | XP_005257623.1:p.Asp1199ArgfsTer10 |