Canonical Allele Identifier: CA2668431673

Gene: BCHE

Linked Data

• gnomAD v4: 3-165829647-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829647_165829648insG , CM000665.2:g.165829647_165829648insG	GRCh38
NC_000003.11:g.165547435_165547436insG , CM000665.1:g.165547435_165547436insG	GRCh37
NC_000003.10:g.167030129_167030130insG	NCBI36
NG_009031.1:g.12818_12819insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1386_1387insC MANE Select	ENSP00000264381.3:p.Gly463ArgfsTer7
ENST00000264381.7:c.1386_1387insC	ENSP00000264381.3:p.Gly463ArgfsTer7
ENST00000479451.5:c.107+7666_107+7667insC	ENSP00000418325.1:n.107+7666_107+7667insC
ENST00000482958.1:c.1386_1387insC	ENSP00000419804.1:p.Gly463ArgfsTer7
ENST00000488954.1:c.107+7666_107+7667insC	ENSP00000418504.1:n.107+7666_107+7667insC
ENST00000497011.5:c.1386_1387insC	ENSP00000419505.1:p.Gly463ArgfsTer7
NM_000055.2:c.1386_1387insC	NP_000046.1:p.Gly463ArgfsTer7
XM_005247685.1:c.1509_1510insC	XP_005247742.1:p.Gly504ArgfsTer7
NM_000055.3:c.1386_1387insC	NP_000046.1:p.Gly463ArgfsTer7
NR_137635.1:n.159+7666_159+7667insC
NR_137636.1:n.1553_1554insC
NM_000055.4:c.1386_1387insC MANE Select	NP_000046.1:p.Gly463ArgfsTer7
NR_137635.2:n.110+7666_110+7667insC
NR_137636.2:n.1504_1505insC