Canonical Allele Identifier: CA547857062

Gene: BCHE

Linked Data

• dbSNP Id: rs1245942719
• gnomAD v2: 3-165547579-C-CA
• gnomAD v4: 3-165829791-C-CA
• MyVariant Identifiers: chr3:g.165547579_165547580insA (hg19) ; chr3:g.165829791_165829792insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829792dup , CM000665.2:g.165829792dup	GRCh38
NC_000003.11:g.165547580dup , CM000665.1:g.165547580dup	GRCh37
NC_000003.10:g.167030274dup	NCBI36
NG_009031.1:g.12674dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1242dup MANE Select	ENSP00000264381.3:p.Glu415Ter
ENST00000264381.7:c.1242dup	ENSP00000264381.3:p.Glu415Ter
ENST00000479451.5:c.107+7522dup	ENSP00000418325.1:n.107+7522dup
ENST00000482958.1:c.1242dup	ENSP00000419804.1:p.Glu415Ter
ENST00000488954.1:c.107+7522dup	ENSP00000418504.1:n.107+7522dup
ENST00000497011.5:c.1242dup	ENSP00000419505.1:p.Glu415Ter
NM_000055.2:c.1242dup	NP_000046.1:p.Glu415Ter
XM_005247685.1:c.1365dup	XP_005247742.1:p.Glu456Ter
NM_000055.3:c.1242dup	NP_000046.1:p.Glu415Ter
NR_137635.1:n.159+7522dup
NR_137636.1:n.1409dup
NM_000055.4:c.1242dup MANE Select	NP_000046.1:p.Glu415Ter
NR_137635.2:n.110+7522dup
NR_137636.2:n.1360dup