Linked Data
ClinVar Variation Id:
367875
dbSNP Id:
rs67202578
gnomAD v2:
X-123505439-GA-G
gnomAD v3:
X-124371589-GA-G
gnomAD v4:
X-124371589-GA-G
MyVariant Identifiers:
chrX:g.123505444del (hg19)
chrX:g.123505440del (hg19)
chrX:g.124371594del (hg38)
chrX:g.124371590del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.124371594del , CM000685.2:g.124371594del | GRCh38 |
| NC_000023.10:g.123505444del , CM000685.1:g.123505444del | GRCh37 |
| NC_000023.9:g.123333125del | NCBI36 |
| NG_007464.1:g.30295del , LRG_106:g.30295del | |
| NG_033796.2:g.416035del , LRG_782:g.416035del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360027.5:c.*203del (SH2D1A) | ENSP00000353126.4:n.*203del | |
| ENST00000647259.2:c.*428del (SH2D1A) | ENSP00000494582.1:n.*428del | |
| ENST00000698112.1:n.896del (SH2D1A) | ||
| ENST00000698113.1:c.*203del (SH2D1A) | ENSP00000513571.1:n.*203del | |
| ENST00000698114.1:n.450del (SH2D1A) | ||
| ENST00000698115.1:n.525del (SH2D1A) | ||
| ENST00000698116.1:c.*203del (SH2D1A) | ENSP00000513572.1:n.*203del | |
| ENST00000698117.1:c.*304del (SH2D1A) | ENSP00000513573.1:n.*304del | |
| ENST00000698118.1:c.*18+185del (SH2D1A) | ENSP00000513574.1:n.*18+185del | |
| ENST00000698119.1:n.889del (SH2D1A) | ||
| ENST00000698120.1:n.427del (SH2D1A) | ||
| ENST00000371139.9:c.*203del (SH2D1A) MANE Select | ENSP00000360181.5:n.*203del | |
| ENST00000647259.1:c.*428del (SH2D1A) | ENSP00000494582.1:n.*428del | |
| ENST00000371139.8:c.*203del (SH2D1A) | ENSP00000360181.4:n.*203del | |
| ENST00000469481.1:n.454-40228del (STAG2) | ||
| ENST00000635645.1:n.951del (SH2D1A) | ||
| NM_001114937.2:c.*203del (SH2D1A) | NP_001108409.1:n.*203del | |
| NM_002351.4:c.*203del , LRG_106t1:c.*203del (SH2D1A) | NP_002342.1:n.*203del | |
| NM_002351.5:c.*203del (SH2D1A) MANE Select | NP_002342.1:n.*203del | |
| NM_001114937.3:c.*203del (SH2D1A) | NP_001108409.1:n.*203del |