Canonical Allele Identifier: CA1417758982

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829442_165829443delinsAC , CM000665.2:g.165829442_165829443delinsAC	GRCh38
NC_000003.11:g.165547230_165547231delinsAC , CM000665.1:g.165547230_165547231delinsAC	GRCh37
NC_000003.10:g.167029924_167029925delinsAC	NCBI36
NG_009031.1:g.13023_13024delinsGT

Transcript Alleles

HGVS	Amino-acid Change
NM_000055.4:c.1517+74_1517+75delinsGT MANE Select	NP_000046.1:n.1517+74_1517+75delinsGT
ENST00000264381.8:c.1517+74_1517+75delinsGT MANE Select	ENSP00000264381.3:n.1517+74_1517+75delinsGT
NM_000055.2:c.1517+74_1517+75delinsGT	NP_000046.1:n.1517+74_1517+75delinsGT
NM_000055.3:c.1517+74_1517+75delinsGT	NP_000046.1:n.1517+74_1517+75delinsGT
NR_137635.1:n.159+7871_159+7872delinsGT
NR_137635.2:n.110+7871_110+7872delinsGT
NR_137636.1:n.1684+74_1684+75delinsGT
NR_137636.2:n.1635+74_1635+75delinsGT
ENST00000264381.7:c.1517+74_1517+75delinsGT	ENSP00000264381.3:n.1517+74_1517+75delinsGT
ENST00000479451.5:c.107+7871_107+7872delinsGT	ENSP00000418325.1:n.107+7871_107+7872delinsGT
ENST00000482958.1:c.1517+74_1517+75delinsGT	ENSP00000419804.1:n.1517+74_1517+75delinsGT
ENST00000488954.1:c.107+7871_107+7872delinsGT	ENSP00000418504.1:n.107+7871_107+7872delinsGT
ENST00000497011.5:c.1517+74_1517+75delinsGT	ENSP00000419505.1:n.1517+74_1517+75delinsGT
XM_005247685.1:c.1640+74_1640+75delinsGT	XP_005247742.1:n.1640+74_1640+75delinsGT