Linked Data
gnomAD v4:
X-124346287-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124346289del , CM000685.2:g.124346289del | GRCh38 |
| NC_000023.10:g.123480139del , CM000685.1:g.123480139del | GRCh37 |
| NC_000023.9:g.123307820del | NCBI36 |
| NG_007464.1:g.4990del , LRG_106:g.4990del | |
| NG_033796.2:g.390730del , LRG_782:g.390730del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698112.1:n.499-19472del (SH2D1A) | ||
| ENST00000698113.1:c.-354del (SH2D1A) | ENSP00000513571.1:n.-354del | |
| ENST00000469481.1:n.454-65533del (STAG2) | ||
| ENST00000635645.1:n.499-19472del (SH2D1A) | ||
| NM_001114937.2:c.-354del (SH2D1A) | NP_001108409.1:n.-354del | |
| NM_002351.4:c.-354del , LRG_106t1:c.-354del (SH2D1A) | NP_002342.1:n.-354del |