Linked Data
dbSNP Id:
rs755838699
ExAC:
9:95481125 CCA / C
gnomAD v2:
9-95481125-CCA-C
gnomAD v4:
9-92718843-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92718845_92718846del , CM000671.2:g.92718845_92718846del | GRCh38 |
| NC_000009.11:g.95481127_95481128del , CM000671.1:g.95481127_95481128del | GRCh37 |
| NC_000009.10:g.94520948_94520949del | NCBI36 |
| NG_033908.1:g.50957_50958del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1800_1801del MANE Select | ENSP00000349351.6:p.Gly601AspfsTer18 | |
| ENST00000356884.10:c.1800_1801del | ENSP00000349351.6:p.Gly601AspfsTer18 | |
| ENST00000375512.3:c.1800_1801del | ENSP00000364662.3:p.Gly601AspfsTer18 | |
| NM_001003800.1:c.1800_1801del | NP_001003800.1:p.Gly601AspfsTer18 | |
| NM_015250.3:c.1800_1801del | NP_056065.1:p.Gly601AspfsTer18 | |
| XM_017014551.1:c.1881_1882del | XP_016870040.1:p.Gly628AspfsTer18 | |
| NM_001003800.2:c.1800_1801del MANE Select | NP_001003800.1:p.Gly601AspfsTer18 | |
| NM_015250.4:c.1800_1801del | NP_056065.1:p.Gly601AspfsTer18 |