Linked Data
dbSNP Id:
rs774525687
ExAC:
6:12296145 GGGT / G
gnomAD v2:
6-12296145-GGGT-G
gnomAD v4:
6-12295912-GGGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12295914_12295916del , CM000668.2:g.12295914_12295916del | GRCh38 |
| NC_000006.11:g.12296147_12296149del , CM000668.1:g.12296147_12296149del | GRCh37 |
| NC_000006.10:g.12404133_12404135del | NCBI36 |
| NG_016196.1:g.10619_10621del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379375.6:c.534-48_534-46del MANE Select | ENSP00000368683.5:n.534-48_534-46del | |
| ENST00000379375.5:c.534-48_534-46del | ENSP00000368683.5:n.534-48_534-46del | |
| NM_001168319.1:c.531-48_531-46del | NP_001161791.1:n.531-48_531-46del | |
| NM_001955.4:c.534-48_534-46del | NP_001946.3:n.534-48_534-46del | |
| XM_011514330.1:c.534-48_534-46del | XP_011512632.1:n.534-48_534-46del | |
| XM_011514331.1:c.534-48_534-46del | XP_011512633.1:n.534-48_534-46del | |
| XM_011514332.1:c.531-48_531-46del | XP_011512634.1:n.531-48_531-46del | |
| XM_011514330.2:c.534-48_534-46del | XP_011512632.1:n.534-48_534-46del | |
| XM_011514331.3:c.534-48_534-46del | XP_011512633.1:n.534-48_534-46del | |
| XM_011514332.2:c.531-48_531-46del | XP_011512634.1:n.531-48_531-46del | |
| XM_017010331.1:c.534-48_534-46del | XP_016865820.1:n.534-48_534-46del | |
| NM_001955.5:c.534-48_534-46del MANE Select | NP_001946.3:n.534-48_534-46del | |
| NM_001168319.2:c.531-48_531-46del | NP_001161791.1:n.531-48_531-46del |