Canonical Allele Identifier: CA1417712008

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786489_165786491delinsCCA , CM000665.2:g.165786489_165786491delinsCCA	GRCh38
NC_000003.11:g.165504277_165504279delinsCCA , CM000665.1:g.165504277_165504279delinsCCA	GRCh37
NC_000003.10:g.166986971_166986973delinsCCA	NCBI36
NG_009031.1:g.55975_55977delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1518-180_1518-178delinsTGG MANE Select	ENSP00000264381.3:n.1518-180_1518-178delinsTGG
ENST00000264381.7:c.1518-180_1518-178delinsTGG	ENSP00000264381.3:n.1518-180_1518-178delinsTGG
ENST00000479451.5:c.108-180_108-178delinsTGG	ENSP00000418325.1:n.108-180_108-178delinsTGG
ENST00000482958.1:c.*24-180_*24-178delinsTGG	ENSP00000419804.1:n.*24-180_*24-178delinsTGG
ENST00000488954.1:c.108-180_108-178delinsTGG	ENSP00000418504.1:n.108-180_108-178delinsTGG
ENST00000497011.5:c.1518-180_1518-178delinsTGG	ENSP00000419505.1:n.1518-180_1518-178delinsTGG
NM_000055.2:c.1518-180_1518-178delinsTGG	NP_000046.1:n.1518-180_1518-178delinsTGG
XM_005247685.1:c.1641-180_1641-178delinsTGG	XP_005247742.1:n.1641-180_1641-178delinsTGG
NM_000055.3:c.1518-180_1518-178delinsTGG	NP_000046.1:n.1518-180_1518-178delinsTGG
NR_137635.1:n.160-180_160-178delinsTGG
NR_137636.1:n.1685-180_1685-178delinsTGG
NM_000055.4:c.1518-180_1518-178delinsTGG MANE Select	NP_000046.1:n.1518-180_1518-178delinsTGG
NR_137635.2:n.111-180_111-178delinsTGG
NR_137636.2:n.1636-180_1636-178delinsTGG