Linked Data
dbSNP Id:
rs768076749
ExAC:
17:649260 TG / T
gnomAD v2:
17-649260-TG-T
gnomAD v4:
17-746020-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.746021del , CM000679.2:g.746021del | GRCh38 |
| NC_000017.10:g.649261del , CM000679.1:g.649261del | GRCh37 |
| NC_000017.9:g.596011del | NCBI36 |
| NG_046938.1:g.11852del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319004.6:c.2022del MANE Select | ENSP00000321706.5:p.Phe674LeufsTer5 | |
| ENST00000319004.5:c.2022del | ENSP00000321706.5:p.Phe674LeufsTer5 | |
| ENST00000576778.1:c.1989del | ENSP00000459565.1:p.Phe663LeufsTer5 | |
| NM_015721.2:c.2022del | NP_056536.2:p.Phe674LeufsTer5 | |
| XM_005256667.3:c.2034del | XP_005256724.1:p.Phe678LeufsTer5 | |
| XM_005256668.3:c.2034del | XP_005256725.1:p.Phe678LeufsTer5 | |
| XM_005256670.3:c.1989del | XP_005256727.1:p.Phe663LeufsTer5 | |
| XM_011523910.1:c.2034del | XP_011522212.1:p.Phe678LeufsTer5 | |
| XM_011523911.1:c.2034del | XP_011522213.1:p.Phe678LeufsTer5 | |
| XM_011523912.1:c.1989del | XP_011522214.1:p.Phe663LeufsTer5 | |
| XM_011523913.1:c.1989del | XP_011522215.1:p.Phe663LeufsTer5 | |
| XM_005256667.4:c.2034del | XP_005256724.1:p.Phe678LeufsTer5 | |
| XM_005256670.5:c.1989del | XP_005256727.1:p.Phe663LeufsTer5 | |
| XM_011523910.2:c.2034del | XP_011522212.1:p.Phe678LeufsTer5 | |
| XM_011523911.2:c.2034del | XP_011522213.1:p.Phe678LeufsTer5 | |
| XM_011523912.2:c.1989del | XP_011522214.1:p.Phe663LeufsTer5 | |
| XM_011523913.2:c.1989del | XP_011522215.1:p.Phe663LeufsTer5 | |
| XM_017024709.1:c.2034del | XP_016880198.1:p.Phe678LeufsTer5 | |
| NM_015721.3:c.2022del MANE Select | NP_056536.2:p.Phe674LeufsTer5 |