Canonical Allele Identifier: CA1417712013

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786492_165786494delinsCTA , CM000665.2:g.165786492_165786494delinsCTA	GRCh38
NC_000003.11:g.165504280_165504282delinsCTA , CM000665.1:g.165504280_165504282delinsCTA	GRCh37
NC_000003.10:g.166986974_166986976delinsCTA	NCBI36
NG_009031.1:g.55972_55974delinsTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1518-183_1518-181delinsTAG MANE Select	ENSP00000264381.3:n.1518-183_1518-181delinsTAG
ENST00000264381.7:c.1518-183_1518-181delinsTAG	ENSP00000264381.3:n.1518-183_1518-181delinsTAG
ENST00000479451.5:c.108-183_108-181delinsTAG	ENSP00000418325.1:n.108-183_108-181delinsTAG
ENST00000482958.1:c.*24-183_*24-181delinsTAG	ENSP00000419804.1:n.*24-183_*24-181delinsTAG
ENST00000488954.1:c.108-183_108-181delinsTAG	ENSP00000418504.1:n.108-183_108-181delinsTAG
ENST00000497011.5:c.1518-183_1518-181delinsTAG	ENSP00000419505.1:n.1518-183_1518-181delinsTAG
NM_000055.2:c.1518-183_1518-181delinsTAG	NP_000046.1:n.1518-183_1518-181delinsTAG
XM_005247685.1:c.1641-183_1641-181delinsTAG	XP_005247742.1:n.1641-183_1641-181delinsTAG
NM_000055.3:c.1518-183_1518-181delinsTAG	NP_000046.1:n.1518-183_1518-181delinsTAG
NR_137635.1:n.160-183_160-181delinsTAG
NR_137636.1:n.1685-183_1685-181delinsTAG
NM_000055.4:c.1518-183_1518-181delinsTAG MANE Select	NP_000046.1:n.1518-183_1518-181delinsTAG
NR_137635.2:n.111-183_111-181delinsTAG
NR_137636.2:n.1636-183_1636-181delinsTAG