Linked Data
dbSNP Id:
rs953842011
gnomAD v2:
6-50798670-TA-T
gnomAD v3:
6-50830957-TA-T
gnomAD v4:
6-50830957-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50830966del , CM000668.2:g.50830966del | GRCh38 |
| NC_000006.11:g.50798679del , CM000668.1:g.50798679del | GRCh37 |
| NC_000006.10:g.50906638del | NCBI36 |
| NG_008438.1:g.17241del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393655.4:c.601+2287del MANE Select | ENSP00000377265.2:n.601+2287del | |
| ENST00000393655.3:c.601+2287del | ENSP00000377265.2:n.601+2287del | |
| NM_003221.3:c.601+2287del | NP_003212.2:n.601+2287del | |
| XM_006715176.2:c.601+2287del | XP_006715239.1:n.601+2287del | |
| XM_006715177.2:c.547+2287del | XP_006715240.1:n.547+2287del | |
| XM_011514834.1:c.628+2287del | XP_011513136.1:n.628+2287del | |
| XM_011514835.1:c.628+2287del | XP_011513137.1:n.628+2287del | |
| XM_011514836.1:c.628+2287del | XP_011513138.1:n.628+2287del | |
| XM_011514837.1:c.628+2287del | XP_011513139.1:n.628+2287del | |
| XM_011514837.2:c.628+2287del | XP_011513139.1:n.628+2287del | |
| XM_017011233.1:c.766+2287del | XP_016866722.1:n.766+2287del | |
| XM_017011234.1:c.730+2287del | XP_016866723.1:n.730+2287del | |
| XM_017011235.2:c.142+2287del | XP_016866724.1:n.142+2287del | |
| NM_003221.4:c.601+2287del MANE Select | NP_003212.2:n.601+2287del |