Canonical Allele Identifier: CA2668432398

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830211-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830211_165830212insG , CM000665.2:g.165830211_165830212insG	GRCh38
NC_000003.11:g.165547999_165548000insG , CM000665.1:g.165547999_165548000insG	GRCh37
NC_000003.10:g.167030693_167030694insG	NCBI36
NG_009031.1:g.12254_12255insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.822_823insC MANE Select	ENSP00000264381.3:p.Ala275ArgfsTer2
ENST00000264381.7:c.822_823insC	ENSP00000264381.3:p.Ala275ArgfsTer2
ENST00000479451.5:c.107+7102_107+7103insC	ENSP00000418325.1:n.107+7102_107+7103insC
ENST00000482958.1:c.822_823insC	ENSP00000419804.1:p.Ala275ArgfsTer2
ENST00000488954.1:c.107+7102_107+7103insC	ENSP00000418504.1:n.107+7102_107+7103insC
ENST00000497011.5:c.822_823insC	ENSP00000419505.1:p.Ala275ArgfsTer2
NM_000055.2:c.822_823insC	NP_000046.1:p.Ala275ArgfsTer2
XM_005247685.1:c.945_946insC	XP_005247742.1:p.Ala316ArgfsTer2
NM_000055.3:c.822_823insC	NP_000046.1:p.Ala275ArgfsTer2
NR_137635.1:n.159+7102_159+7103insC
NR_137636.1:n.989_990insC
NM_000055.4:c.822_823insC MANE Select	NP_000046.1:p.Ala275ArgfsTer2
NR_137635.2:n.110+7102_110+7103insC
NR_137636.2:n.940_941insC