Canonical Allele Identifier: CA2668431698

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830037-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830038del , CM000665.2:g.165830038del	GRCh38
NC_000003.11:g.165547826del , CM000665.1:g.165547826del	GRCh37
NC_000003.10:g.167030520del	NCBI36
NG_009031.1:g.12428del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.996del MANE Select	ENSP00000264381.3:p.Asp332GlufsTer27
ENST00000264381.7:c.996del	ENSP00000264381.3:p.Asp332GlufsTer27
ENST00000479451.5:c.107+7276del	ENSP00000418325.1:n.107+7276del
ENST00000482958.1:c.996del	ENSP00000419804.1:p.Asp332GlufsTer27
ENST00000488954.1:c.107+7276del	ENSP00000418504.1:n.107+7276del
ENST00000497011.5:c.996del	ENSP00000419505.1:p.Asp332GlufsTer27
NM_000055.2:c.996del	NP_000046.1:p.Asp332GlufsTer27
XM_005247685.1:c.1119del	XP_005247742.1:p.Asp373GlufsTer27
NM_000055.3:c.996del	NP_000046.1:p.Asp332GlufsTer27
NR_137635.1:n.159+7276del
NR_137636.1:n.1163del
NM_000055.4:c.996del MANE Select	NP_000046.1:p.Asp332GlufsTer27
NR_137635.2:n.110+7276del
NR_137636.2:n.1114del