Canonical Allele Identifier: CA1417759669

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829875_165829876delinsGA , CM000665.2:g.165829875_165829876delinsGA	GRCh38
NC_000003.11:g.165547663_165547664delinsGA , CM000665.1:g.165547663_165547664delinsGA	GRCh37
NC_000003.10:g.167030357_167030358delinsGA	NCBI36
NG_009031.1:g.12590_12591delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1158_1159delinsTC MANE Select	ENSP00000264381.3:p.Phe386=
ENST00000264381.7:c.1158_1159delinsTC	ENSP00000264381.3:p.Phe386=
ENST00000479451.5:c.107+7438_107+7439delinsTC	ENSP00000418325.1:n.107+7438_107+7439delinsTC
ENST00000482958.1:c.1158_1159delinsTC	ENSP00000419804.1:p.Phe386=
ENST00000488954.1:c.107+7438_107+7439delinsTC	ENSP00000418504.1:n.107+7438_107+7439delinsTC
ENST00000497011.5:c.1158_1159delinsTC	ENSP00000419505.1:p.Phe386=
NM_000055.2:c.1158_1159delinsTC	NP_000046.1:p.Phe386=
XM_005247685.1:c.1281_1282delinsTC	XP_005247742.1:p.Phe427=
NM_000055.3:c.1158_1159delinsTC	NP_000046.1:p.Phe386=
NR_137635.1:n.159+7438_159+7439delinsTC
NR_137636.1:n.1325_1326delinsTC
NM_000055.4:c.1158_1159delinsTC MANE Select	NP_000046.1:p.Phe386=
NR_137635.2:n.110+7438_110+7439delinsTC
NR_137636.2:n.1276_1277delinsTC