Canonical Allele Identifier: CA2668431671

Gene: BCHE

Linked Data

• gnomAD v4: 3-165829640-ATCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829643_165829646del , CM000665.2:g.165829643_165829646del	GRCh38
NC_000003.11:g.165547431_165547434del , CM000665.1:g.165547431_165547434del	GRCh37
NC_000003.10:g.167030125_167030128del	NCBI36
NG_009031.1:g.12822_12825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1390_1393del MANE Select	ENSP00000264381.3:p.Val464CysfsTer27
ENST00000264381.7:c.1390_1393del	ENSP00000264381.3:p.Val464CysfsTer27
ENST00000479451.5:c.107+7670_107+7673del	ENSP00000418325.1:n.107+7670_107+7673del
ENST00000482958.1:c.1390_1393del	ENSP00000419804.1:p.Val464CysfsTer27
ENST00000488954.1:c.107+7670_107+7673del	ENSP00000418504.1:n.107+7670_107+7673del
ENST00000497011.5:c.1390_1393del	ENSP00000419505.1:p.Val464CysfsTer27
NM_000055.2:c.1390_1393del	NP_000046.1:p.Val464CysfsTer27
XM_005247685.1:c.1513_1516del	XP_005247742.1:p.Val505CysfsTer27
NM_000055.3:c.1390_1393del	NP_000046.1:p.Val464CysfsTer27
NR_137635.1:n.159+7670_159+7673del
NR_137636.1:n.1557_1560del
NM_000055.4:c.1390_1393del MANE Select	NP_000046.1:p.Val464CysfsTer27
NR_137635.2:n.110+7670_110+7673del
NR_137636.2:n.1508_1511del