Linked Data
dbSNP Id:
rs747763804
ExAC:
17:649532 GC / G
gnomAD v2:
17-649532-GC-G
gnomAD v3:
17-746292-GC-G
gnomAD v4:
17-746292-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.746293del , CM000679.2:g.746293del | GRCh38 |
| NC_000017.10:g.649533del , CM000679.1:g.649533del | GRCh37 |
| NC_000017.9:g.596283del | NCBI36 |
| NG_046938.1:g.11580del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319004.6:c.1750del MANE Select | ENSP00000321706.5:p.Ala584ProfsTer30 | |
| ENST00000319004.5:c.1750del | ENSP00000321706.5:p.Ala584ProfsTer30 | |
| ENST00000576778.1:c.1717del | ENSP00000459565.1:p.Ala573ProfsTer30 | |
| NM_015721.2:c.1750del | NP_056536.2:p.Ala584ProfsTer30 | |
| XM_005256667.3:c.1762del | XP_005256724.1:p.Ala588ProfsTer30 | |
| XM_005256668.3:c.1762del | XP_005256725.1:p.Ala588ProfsTer30 | |
| XM_005256670.3:c.1717del | XP_005256727.1:p.Ala573ProfsTer30 | |
| XM_011523910.1:c.1762del | XP_011522212.1:p.Ala588ProfsTer30 | |
| XM_011523911.1:c.1762del | XP_011522213.1:p.Ala588ProfsTer30 | |
| XM_011523912.1:c.1717del | XP_011522214.1:p.Ala573ProfsTer30 | |
| XM_011523913.1:c.1717del | XP_011522215.1:p.Ala573ProfsTer30 | |
| XM_005256667.4:c.1762del | XP_005256724.1:p.Ala588ProfsTer30 | |
| XM_005256670.5:c.1717del | XP_005256727.1:p.Ala573ProfsTer30 | |
| XM_011523910.2:c.1762del | XP_011522212.1:p.Ala588ProfsTer30 | |
| XM_011523911.2:c.1762del | XP_011522213.1:p.Ala588ProfsTer30 | |
| XM_011523912.2:c.1717del | XP_011522214.1:p.Ala573ProfsTer30 | |
| XM_011523913.2:c.1717del | XP_011522215.1:p.Ala573ProfsTer30 | |
| XM_017024709.1:c.1762del | XP_016880198.1:p.Ala588ProfsTer30 | |
| NM_015721.3:c.1750del MANE Select | NP_056536.2:p.Ala584ProfsTer30 |