Linked Data
dbSNP Id:
rs1169374046
gnomAD v2:
1-162169437-TGTAA-T
gnomAD v3:
1-162199647-TGTAA-T
gnomAD v4:
1-162199647-TGTAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162199648_162199651del , CM000663.2:g.162199648_162199651del | GRCh38 |
| NC_000001.10:g.162169438_162169441del , CM000663.1:g.162169438_162169441del | GRCh37 |
| NC_000001.9:g.160436062_160436065del | NCBI36 |
| NG_015979.1:g.134858_134861del | |
| NG_015979.2:g.134858_134861del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361897.10:c.177+45172_177+45175del MANE Select | ENSP00000355133.5:n.177+45172_177+45175del | |
| ENST00000361897.9:c.177+45172_177+45175del | ENSP00000355133.5:n.177+45172_177+45175del | |
| ENST00000430120.3:c.177+45172_177+45175del | ENSP00000396713.3:n.177+45172_177+45175del | |
| ENST00000530878.5:c.177+45172_177+45175del | ENSP00000431586.1:n.177+45172_177+45175del | |
| NM_001164757.1:c.177+45172_177+45175del | NP_001158229.1:n.177+45172_177+45175del | |
| NM_014697.2:c.177+45172_177+45175del | NP_055512.1:n.177+45172_177+45175del | |
| NM_014697.3:c.177+45172_177+45175del MANE Select | NP_055512.1:n.177+45172_177+45175del | |
| NM_001164757.2:c.177+45172_177+45175del | NP_001158229.1:n.177+45172_177+45175del |