Canonical Allele Identifier: CA3038517989

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829994_165829995insAC , CM000665.2:g.165829994_165829995insAC	GRCh38
NC_000003.11:g.165547782_165547783insAC , CM000665.1:g.165547782_165547783insAC	GRCh37
NC_000003.10:g.167030476_167030477insAC	NCBI36
NG_009031.1:g.12471_12472insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1039_1040insGT MANE Select	ENSP00000264381.3:p.Val347GlyfsTer13
ENST00000264381.7:c.1039_1040insGT	ENSP00000264381.3:p.Val347GlyfsTer13
ENST00000479451.5:c.107+7319_107+7320insGT	ENSP00000418325.1:n.107+7319_107+7320insGT
ENST00000482958.1:c.1039_1040insGT	ENSP00000419804.1:p.Val347GlyfsTer13
ENST00000488954.1:c.107+7319_107+7320insGT	ENSP00000418504.1:n.107+7319_107+7320insGT
ENST00000497011.5:c.1039_1040insGT	ENSP00000419505.1:p.Val347GlyfsTer13
NM_000055.2:c.1039_1040insGT	NP_000046.1:p.Val347GlyfsTer13
XM_005247685.1:c.1162_1163insGT	XP_005247742.1:p.Val388GlyfsTer13
NM_000055.3:c.1039_1040insGT	NP_000046.1:p.Val347GlyfsTer13
NR_137635.1:n.159+7319_159+7320insGT
NR_137636.1:n.1206_1207insGT
NM_000055.4:c.1039_1040insGT MANE Select	NP_000046.1:p.Val347GlyfsTer13
NR_137635.2:n.110+7319_110+7320insGT
NR_137636.2:n.1157_1158insGT