Linked Data
dbSNP Id:
rs531232929
gnomAD v2:
21-45712073-TC-T
gnomAD v3:
21-44292190-TC-T
gnomAD v4:
21-44292190-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44292195del , CM000683.2:g.44292195del | GRCh38 |
| NC_000021.8:g.45712078del , CM000683.1:g.45712078del | GRCh37 |
| NC_000021.7:g.44536506del | NCBI36 |
| NG_009556.1:g.11316del , LRG_18:g.11316del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.996-107del MANE Select | ENSP00000291582.5:n.996-107del | |
| ENST00000291582.5:c.996-107del | ENSP00000291582.5:n.996-107del | |
| ENST00000337909.5:n.457-107del | ||
| ENST00000397994.8:n.457-107del | ||
| ENST00000527919.5:n.1726-107del | ||
| ENST00000530812.5:n.2743-107del | ||
| NM_000383.3:c.996-107del | NP_000374.1:n.996-107del | |
| XM_011529551.1:c.993-107del | XP_011527853.1:n.993-107del | |
| NM_000383.4:c.996-107del MANE Select | NP_000374.1:n.996-107del |