Canonical Allele Identifier: CA2513122206

Gene: SH2D1A STAG2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346404_124346405insCCC , CM000685.2:g.124346404_124346405insCCC	GRCh38
NC_000023.10:g.123480254_123480255insCCC , CM000685.1:g.123480254_123480255insCCC	GRCh37
NC_000023.9:g.123307935_123307936insCCC	NCBI36
NG_007464.1:g.5105_5106insCCC , LRG_106:g.5105_5106insCCC
NG_033796.2:g.390845_390846insCCC , LRG_782:g.390845_390846insCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647259.2:c.-239_-238insCCC (SH2D1A)	ENSP00000494582.1:n.-239_-238insCCC
ENST00000698112.1:n.499-19357_499-19356insCCC (SH2D1A)
ENST00000698113.1:c.-239_-238insCCC (SH2D1A)	ENSP00000513571.1:n.-239_-238insCCC
ENST00000698114.1:n.34_35insCCC (SH2D1A)
ENST00000647259.1:c.-239_-238insCCC (SH2D1A)	ENSP00000494582.1:n.-239_-238insCCC
ENST00000371139.8:c.-239_-238insCCC (SH2D1A)	ENSP00000360181.4:n.-239_-238insCCC
ENST00000469481.1:n.454-65418_454-65417insCCC (STAG2)
ENST00000635645.1:n.499-19357_499-19356insCCC (SH2D1A)
NM_001114937.2:c.-239_-238insCCC (SH2D1A)	NP_001108409.1:n.-239_-238insCCC
NM_002351.4:c.-239_-238insCCC , LRG_106t1:c.-239_-238insCCC (SH2D1A)	NP_002342.1:n.-239_-238insCCC