Canonical Allele Identifier: CA2668431703

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830063-C-CAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830063_165830064insAGT , CM000665.2:g.165830063_165830064insAGT	GRCh38
NC_000003.11:g.165547851_165547852insAGT , CM000665.1:g.165547851_165547852insAGT	GRCh37
NC_000003.10:g.167030545_167030546insAGT	NCBI36
NG_009031.1:g.12402_12403insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.970_971insACT MANE Select	ENSP00000264381.3:p.Gly324delinsAspCys
ENST00000264381.7:c.970_971insACT	ENSP00000264381.3:p.Gly324delinsAspCys
ENST00000479451.5:c.107+7250_107+7251insACT	ENSP00000418325.1:n.107+7250_107+7251insACT
ENST00000482958.1:c.970_971insACT	ENSP00000419804.1:p.Gly324delinsAspCys
ENST00000488954.1:c.107+7250_107+7251insACT	ENSP00000418504.1:n.107+7250_107+7251insACT
ENST00000497011.5:c.970_971insACT	ENSP00000419505.1:p.Gly324delinsAspCys
NM_000055.2:c.970_971insACT	NP_000046.1:p.Gly324delinsAspCys
XM_005247685.1:c.1093_1094insACT	XP_005247742.1:p.Gly365delinsAspCys
NM_000055.3:c.970_971insACT	NP_000046.1:p.Gly324delinsAspCys
NR_137635.1:n.159+7250_159+7251insACT
NR_137636.1:n.1137_1138insACT
NM_000055.4:c.970_971insACT MANE Select	NP_000046.1:p.Gly324delinsAspCys
NR_137635.2:n.110+7250_110+7251insACT
NR_137636.2:n.1088_1089insACT