Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124346229del , CM000685.2:g.124346229del | GRCh38 |
| NC_000023.10:g.123480079del , CM000685.1:g.123480079del | GRCh37 |
| NC_000023.9:g.123307760del | NCBI36 |
| NG_007464.1:g.4930del , LRG_106:g.4930del | |
| NG_033796.2:g.390670del , LRG_782:g.390670del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698112.1:n.499-19532del (SH2D1A) | ||
| ENST00000698113.1:c.-414del (SH2D1A) | ENSP00000513571.1:n.-414del | |
| ENST00000469481.1:n.454-65593del (STAG2) | ||
| ENST00000635645.1:n.499-19532del (SH2D1A) |