Canonical Allele Identifier: CA2580069030

Gene: BCHE

Linked Data

• ClinVar Variation Id: 2437005
• ClinVar RCV Id: RCV003140925
• gnomAD v4: 3-165830098-A-AGTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830099_165830102dup , CM000665.2:g.165830099_165830102dup	GRCh38
NC_000003.11:g.165547887_165547890dup , CM000665.1:g.165547887_165547890dup	GRCh37
NC_000003.10:g.167030581_167030584dup	NCBI36
NG_009031.1:g.12364_12367dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.932_935dup MANE Select	ENSP00000264381.3:p.Pro313AspfsTer14
ENST00000264381.7:c.932_935dup	ENSP00000264381.3:p.Pro313AspfsTer14
ENST00000479451.5:c.107+7212_107+7215dup	ENSP00000418325.1:n.107+7212_107+7215dup
ENST00000482958.1:c.932_935dup	ENSP00000419804.1:p.Pro313AspfsTer14
ENST00000488954.1:c.107+7212_107+7215dup	ENSP00000418504.1:n.107+7212_107+7215dup
ENST00000497011.5:c.932_935dup	ENSP00000419505.1:p.Pro313AspfsTer14
NM_000055.2:c.932_935dup	NP_000046.1:p.Pro313AspfsTer14
XM_005247685.1:c.1055_1058dup	XP_005247742.1:p.Pro354AspfsTer14
NM_000055.3:c.932_935dup	NP_000046.1:p.Pro313AspfsTer14
NR_137635.1:n.159+7212_159+7215dup
NR_137636.1:n.1099_1102dup
NM_000055.4:c.932_935dup MANE Select	NP_000046.1:p.Pro313AspfsTer14
NR_137635.2:n.110+7212_110+7215dup
NR_137636.2:n.1050_1053dup