Canonical Allele Identifier: CA2668431690

Gene: BCHE

Linked Data

• gnomAD v4: 3-165829960-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829966del , CM000665.2:g.165829966del	GRCh38
NC_000003.11:g.165547754del , CM000665.1:g.165547754del	GRCh37
NC_000003.10:g.167030448del	NCBI36
NG_009031.1:g.12505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1073del MANE Select	ENSP00000264381.3:p.Leu358Ter
ENST00000264381.7:c.1073del	ENSP00000264381.3:p.Leu358Ter
ENST00000479451.5:c.107+7353del	ENSP00000418325.1:n.107+7353del
ENST00000482958.1:c.1073del	ENSP00000419804.1:p.Leu358Ter
ENST00000488954.1:c.107+7353del	ENSP00000418504.1:n.107+7353del
ENST00000497011.5:c.1073del	ENSP00000419505.1:p.Leu358Ter
NM_000055.2:c.1073del	NP_000046.1:p.Leu358Ter
XM_005247685.1:c.1196del	XP_005247742.1:p.Leu399Ter
NM_000055.3:c.1073del	NP_000046.1:p.Leu358Ter
NR_137635.1:n.159+7353del
NR_137636.1:n.1240del
NM_000055.4:c.1073del MANE Select	NP_000046.1:p.Leu358Ter
NR_137635.2:n.110+7353del
NR_137636.2:n.1191del