Canonical Allele Identifier: CA1417759605

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829836_165829837delinsGA , CM000665.2:g.165829836_165829837delinsGA	GRCh38
NC_000003.11:g.165547624_165547625delinsGA , CM000665.1:g.165547624_165547625delinsGA	GRCh37
NC_000003.10:g.167030318_167030319delinsGA	NCBI36
NG_009031.1:g.12629_12630delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1197_1198delinsTC MANE Select	ENSP00000264381.3:p.Phe399=
ENST00000264381.7:c.1197_1198delinsTC	ENSP00000264381.3:p.Phe399=
ENST00000479451.5:c.107+7477_107+7478delinsTC	ENSP00000418325.1:n.107+7477_107+7478delinsTC
ENST00000482958.1:c.1197_1198delinsTC	ENSP00000419804.1:p.Phe399=
ENST00000488954.1:c.107+7477_107+7478delinsTC	ENSP00000418504.1:n.107+7477_107+7478delinsTC
ENST00000497011.5:c.1197_1198delinsTC	ENSP00000419505.1:p.Phe399=
NM_000055.2:c.1197_1198delinsTC	NP_000046.1:p.Phe399=
XM_005247685.1:c.1320_1321delinsTC	XP_005247742.1:p.Phe440=
NM_000055.3:c.1197_1198delinsTC	NP_000046.1:p.Phe399=
NR_137635.1:n.159+7477_159+7478delinsTC
NR_137636.1:n.1364_1365delinsTC
NM_000055.4:c.1197_1198delinsTC MANE Select	NP_000046.1:p.Phe399=
NR_137635.2:n.110+7477_110+7478delinsTC
NR_137636.2:n.1315_1316delinsTC