Canonical Allele Identifier: CA1417760128

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830198_165830202delinsCCAGT , CM000665.2:g.165830198_165830202delinsCCAGT	GRCh38
NC_000003.11:g.165547986_165547990delinsCCAGT , CM000665.1:g.165547986_165547990delinsCCAGT	GRCh37
NC_000003.10:g.167030680_167030684delinsCCAGT	NCBI36
NG_009031.1:g.12264_12268delinsACTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.832_836delinsACTGG MANE Select	ENSP00000264381.3:p.Thr278=
ENST00000264381.7:c.832_836delinsACTGG	ENSP00000264381.3:p.Thr278=
ENST00000479451.5:c.107+7112_107+7116delinsACTGG	ENSP00000418325.1:n.107+7112_107+7116delinsACTGG
ENST00000482958.1:c.832_836delinsACTGG	ENSP00000419804.1:p.Thr278=
ENST00000488954.1:c.107+7112_107+7116delinsACTGG	ENSP00000418504.1:n.107+7112_107+7116delinsACTGG
ENST00000497011.5:c.832_836delinsACTGG	ENSP00000419505.1:p.Thr278=
NM_000055.2:c.832_836delinsACTGG	NP_000046.1:p.Thr278=
XM_005247685.1:c.955_959delinsACTGG	XP_005247742.1:p.Thr319=
NM_000055.3:c.832_836delinsACTGG	NP_000046.1:p.Thr278=
NR_137635.1:n.159+7112_159+7116delinsACTGG
NR_137636.1:n.999_1003delinsACTGG
NM_000055.4:c.832_836delinsACTGG MANE Select	NP_000046.1:p.Thr278=
NR_137635.2:n.110+7112_110+7116delinsACTGG
NR_137636.2:n.950_954delinsACTGG