Canonical Allele Identifier: CA2694635401

Gene: SH2D1A STAG2

Linked Data

• gnomAD v4: X-124346334-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346336del , CM000685.2:g.124346336del	GRCh38
NC_000023.10:g.123480186del , CM000685.1:g.123480186del	GRCh37
NC_000023.9:g.123307867del	NCBI36
NG_007464.1:g.5037del , LRG_106:g.5037del
NG_033796.2:g.390777del , LRG_782:g.390777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698112.1:n.499-19425del (SH2D1A)
ENST00000698113.1:c.-307del (SH2D1A)	ENSP00000513571.1:n.-307del
ENST00000469481.1:n.454-65486del (STAG2)
ENST00000635645.1:n.499-19425del (SH2D1A)
NM_001114937.2:c.-307del (SH2D1A)	NP_001108409.1:n.-307del
NM_002351.4:c.-307del , LRG_106t1:c.-307del (SH2D1A)	NP_002342.1:n.-307del