Canonical Allele Identifier: CA2063284289

Gene: SH2B3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111418759_111418768delinsTGGCCGACGA , CM000674.2:g.111418759_111418768delinsTGGCCGACGA	GRCh38
NC_000012.11:g.111856563_111856572delinsTGGCCGACGA , CM000674.1:g.111856563_111856572delinsTGGCCGACGA	GRCh37
NC_000012.10:g.110340946_110340955delinsTGGCCGACGA	NCBI36
NG_021216.1:g.17812_17821delinsTGGCCGACGA , LRG_621:g.17812_17821delinsTGGCCGACGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341259.7:c.614_623delinsTGGCCGACGA MANE Select	ENSP00000345492.2:p.Leu205=
ENST00000341259.6:c.614_623delinsTGGCCGACGA	ENSP00000345492.2:p.Leu205=
ENST00000550925.2:c.420_429delinsTGGCCGACGA
NM_005475.2:c.614_623delinsTGGCCGACGA , LRG_621t1:c.614_623delinsTGGCCGACGA	NP_005466.1:p.Leu205=
XM_005253818.3:c.614_623delinsTGGCCGACGA	XP_005253875.1:p.Leu205=
XM_005253819.3:c.614_623delinsTGGCCGACGA	XP_005253876.1:p.Leu205=
XM_011537719.1:c.614_623delinsTGGCCGACGA	XP_011536021.1:p.Leu205=
XM_011537720.1:c.614_623delinsTGGCCGACGA	XP_011536022.1:p.Leu205=
XM_011537722.1:c.614_623delinsTGGCCGACGA	XP_011536024.1:p.Leu205=
XM_005253818.4:c.614_623delinsTGGCCGACGA	XP_005253875.1:p.Leu205=
XM_005253819.4:c.614_623delinsTGGCCGACGA	XP_005253876.1:p.Leu205=
XM_011537719.2:c.614_623delinsTGGCCGACGA	XP_011536021.1:p.Leu205=
XM_011537720.3:c.614_623delinsTGGCCGACGA	XP_011536022.1:p.Leu205=
XM_024448790.1:c.614_623delinsTGGCCGACGA	XP_024304558.1:p.Leu205=
XR_001748535.1:n.1015_1024delinsTGGCCGACGA
XR_001748536.1:n.1014_1023delinsTGGCCGACGA
XR_002957278.1:n.1011_1020delinsTGGCCGACGA
NM_005475.3:c.614_623delinsTGGCCGACGA MANE Select	NP_005466.1:p.Leu205=