Canonical Allele Identifier: CA2694635525

Gene: SH2D1A STAG2

Linked Data

• gnomAD v4: X-124346575-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.124346576del , CM000685.2:g.124346576del	GRCh38
NC_000023.10:g.123480426del , CM000685.1:g.123480426del	GRCh37
NC_000023.9:g.123308107del	NCBI36
NG_007464.1:g.5277del , LRG_106:g.5277del
NG_033796.2:g.391017del , LRG_782:g.391017del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360027.5:c.-67del (SH2D1A)	ENSP00000353126.4:n.-67del
ENST00000647259.2:c.-67del (SH2D1A)	ENSP00000494582.1:n.-67del
ENST00000698112.1:n.499-19185del (SH2D1A)
ENST00000698113.1:c.-67del (SH2D1A)	ENSP00000513571.1:n.-67del
ENST00000698114.1:n.116+90del (SH2D1A)
ENST00000698115.1:n.72+90del (SH2D1A)
ENST00000698116.1:c.-58-9del (SH2D1A)	ENSP00000513572.1:n.-58-9del
ENST00000698117.1:c.-67del (SH2D1A)	ENSP00000513573.1:n.-67del
ENST00000371139.9:c.-67del (SH2D1A) MANE Select	ENSP00000360181.5:n.-67del
ENST00000647259.1:c.-67del (SH2D1A)	ENSP00000494582.1:n.-67del
ENST00000360027.4:c.-67del (SH2D1A)	ENSP00000353126.4:n.-67del
ENST00000371139.8:c.-67del (SH2D1A)	ENSP00000360181.4:n.-67del
ENST00000469481.1:n.454-65246del (STAG2)
ENST00000635645.1:n.499-19185del (SH2D1A)
NM_001114937.2:c.-67del (SH2D1A)	NP_001108409.1:n.-67del
NM_002351.4:c.-67del , LRG_106t1:c.-67del (SH2D1A)	NP_002342.1:n.-67del
NM_002351.5:c.-67del (SH2D1A) MANE Select	NP_002342.1:n.-67del
NM_001114937.3:c.-67del (SH2D1A)	NP_001108409.1:n.-67del