Linked Data
ClinVar Variation Id:
367874
ClinVar RCV Id:
RCV001731655
dbSNP Id:
rs769919066
ExAC:
X:123505291 TAA / T
gnomAD v2:
X-123505291-TAA-T
gnomAD v3:
X-124371441-TAA-T
gnomAD v4:
X-124371441-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124371442_124371443del , CM000685.2:g.124371442_124371443del | GRCh38 |
| NC_000023.10:g.123505292_123505293del , CM000685.1:g.123505292_123505293del | GRCh37 |
| NC_000023.9:g.123332973_123332974del | NCBI36 |
| NG_007464.1:g.30143_30144del , LRG_106:g.30143_30144del | |
| NG_033796.2:g.415883_415884del , LRG_782:g.415883_415884del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360027.5:c.*51_*52del (SH2D1A) | ENSP00000353126.4:n.*51_*52del | |
| ENST00000647259.2:c.*276_*277del (SH2D1A) | ENSP00000494582.1:n.*276_*277del | |
| ENST00000698112.1:n.744_745del (SH2D1A) | ||
| ENST00000698113.1:c.*51_*52del (SH2D1A) | ENSP00000513571.1:n.*51_*52del | |
| ENST00000698114.1:n.298_299del (SH2D1A) | ||
| ENST00000698115.1:n.373_374del (SH2D1A) | ||
| ENST00000698116.1:c.*51_*52del (SH2D1A) | ENSP00000513572.1:n.*51_*52del | |
| ENST00000698117.1:c.*152_*153del (SH2D1A) | ENSP00000513573.1:n.*152_*153del | |
| ENST00000698118.1:c.*18+33_*18+34del (SH2D1A) | ENSP00000513574.1:n.*18+33_*18+34del | |
| ENST00000698119.1:n.737_738del (SH2D1A) | ||
| ENST00000698120.1:n.275_276del (SH2D1A) | ||
| ENST00000371139.9:c.*51_*52del (SH2D1A) MANE Select | ENSP00000360181.5:n.*51_*52del | |
| ENST00000647259.1:c.*276_*277del (SH2D1A) | ENSP00000494582.1:n.*276_*277del | |
| ENST00000360027.4:c.*51_*52del (SH2D1A) | ENSP00000353126.4:n.*51_*52del | |
| ENST00000371139.8:c.*51_*52del (SH2D1A) | ENSP00000360181.4:n.*51_*52del | |
| ENST00000469481.1:n.454-40380_454-40379del (STAG2) | ||
| ENST00000477673.2:c.*130_*131del (SH2D1A) | ENSP00000477094.1:n.*130_*131del | |
| ENST00000491950.5:n.428_429del (SH2D1A) | ||
| ENST00000494073.5:n.373_374del (SH2D1A) | ||
| ENST00000635645.1:n.799_800del (SH2D1A) | ||
| NM_001114937.2:c.*51_*52del (SH2D1A) | NP_001108409.1:n.*51_*52del | |
| NM_002351.4:c.*51_*52del , LRG_106t1:c.*51_*52del (SH2D1A) | NP_002342.1:n.*51_*52del | |
| NM_002351.5:c.*51_*52del (SH2D1A) MANE Select | NP_002342.1:n.*51_*52del | |
| NM_001114937.3:c.*51_*52del (SH2D1A) | NP_001108409.1:n.*51_*52del |