Canonical Allele Identifier: CA87410308

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165547488_165547489insG (hg19) ; chr3:g.165829700_165829701insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829700_165829701insG , CM000665.2:g.165829700_165829701insG	GRCh38
NC_000003.11:g.165547488_165547489insG , CM000665.1:g.165547488_165547489insG	GRCh37
NC_000003.10:g.167030182_167030183insG	NCBI36
NG_009031.1:g.12765_12766insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1333_1334insC MANE Select	ENSP00000264381.3:p.Phe445SerfsTer6
ENST00000264381.7:c.1333_1334insC	ENSP00000264381.3:p.Phe445SerfsTer6
ENST00000479451.5:c.107+7613_107+7614insC	ENSP00000418325.1:n.107+7613_107+7614insC
ENST00000482958.1:c.1333_1334insC	ENSP00000419804.1:p.Phe445SerfsTer6
ENST00000488954.1:c.107+7613_107+7614insC	ENSP00000418504.1:n.107+7613_107+7614insC
ENST00000497011.5:c.1333_1334insC	ENSP00000419505.1:p.Phe445SerfsTer6
NM_000055.2:c.1333_1334insC	NP_000046.1:p.Phe445SerfsTer6
XM_005247685.1:c.1456_1457insC	XP_005247742.1:p.Phe486SerfsTer6
NM_000055.3:c.1333_1334insC	NP_000046.1:p.Phe445SerfsTer6
NR_137635.1:n.159+7613_159+7614insC
NR_137636.1:n.1500_1501insC
NM_000055.4:c.1333_1334insC MANE Select	NP_000046.1:p.Phe445SerfsTer6
NR_137635.2:n.110+7613_110+7614insC
NR_137636.2:n.1451_1452insC