Linked Data
dbSNP Id:
rs34965359
ExAC:
1:17660802 AT / A
gnomAD v2:
1-17660802-AT-A
gnomAD v3:
1-17334307-AT-A
gnomAD v4:
1-17334307-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17334320del , CM000663.2:g.17334320del | GRCh38 |
| NC_000001.10:g.17660815del , CM000663.1:g.17660815del | GRCh37 |
| NC_000001.9:g.17533402del | NCBI36 |
| NG_023261.2:g.31131del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.340+311del MANE Select | ENSP00000364597.4:n.340+311del | |
| ENST00000375453.5:c.341-4del | ENSP00000364602.1:n.341-4del | |
| NM_012387.2:c.340+311del | NP_036519.2:n.340+311del | |
| XM_011541150.1:c.340+311del | XP_011539452.1:n.340+311del | |
| XM_011541151.1:c.340+311del | XP_011539453.1:n.340+311del | |
| XM_011541152.1:c.-80+311del | XP_011539454.1:n.-80+311del | |
| XM_011541153.1:c.340+311del | XP_011539455.1:n.340+311del | |
| XM_011541154.1:c.340+311del | XP_011539456.1:n.340+311del | |
| XM_011541155.1:c.340+311del | XP_011539457.1:n.340+311del | |
| XM_011541156.1:c.340+311del | XP_011539458.1:n.340+311del | |
| XM_011541157.1:c.-373+311del | XP_011539459.1:n.-373+311del | |
| XM_011541154.2:c.340+311del | XP_011539456.1:n.340+311del | |
| NM_012387.3:c.340+311del MANE Select | NP_036519.2:n.340+311del |