Linked Data
dbSNP Id:
rs1891938853
gnomAD v3:
14-91313519-GCGCTCA-G
gnomAD v4:
14-91313519-GCGCTCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91313525_91313530del , CM000676.2:g.91313525_91313530del | GRCh38 |
| NC_000014.8:g.91779869_91779874del , CM000676.1:g.91779869_91779874del | GRCh37 |
| NC_000014.7:g.90849622_90849627del | NCBI36 |
| NG_033118.1:g.109320_109325del | |
| NG_033118.2:g.109320_109325del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.2291_2296del MANE Select | ENSP00000374507.6:p.Val764_Ser765del | |
| ENST00000389857.10:c.2291_2296del | ENSP00000374507.6:p.Val764_Ser765del | |
| NM_001080414.3:c.2291_2296del | NP_001073883.2:p.Val764_Ser765del | |
| XM_005267691.3:c.2291_2296del | XP_005267748.1:p.Val764_Ser765del | |
| XM_011536796.1:c.2183_2188del | XP_011535098.1:p.Val728_Ser729del | |
| XR_429316.2:n.2419_2424del | ||
| XR_943459.1:n.2419_2424del | ||
| XM_005267691.5:c.2291_2296del | XP_005267748.1:p.Val764_Ser765del | |
| XM_011536796.2:c.2183_2188del | XP_011535098.1:p.Val728_Ser729del | |
| XM_017021335.2:c.2291_2296del | XP_016876824.1:p.Val764_Ser765del | |
| XM_017021337.2:c.2291_2296del | XP_016876826.1:p.Val764_Ser765del | |
| XR_429316.4:n.2417_2422del | ||
| NM_001080414.4:c.2291_2296del MANE Select | NP_001073883.2:p.Val764_Ser765del |