Canonical Allele Identifier: CA1417759364

Gene: BCHE

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829694_165829696del , CM000665.2:g.165829694_165829696del	GRCh38
NC_000003.11:g.165547482_165547484del , CM000665.1:g.165547482_165547484del	GRCh37
NC_000003.10:g.167030176_167030178del	NCBI36
NG_009031.1:g.12773_12775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1341_1343del MANE Select	ENSP00000264381.3:p.Tyr448del
ENST00000264381.7:c.1341_1343del	ENSP00000264381.3:p.Tyr448del
ENST00000479451.5:c.107+7621_107+7623del	ENSP00000418325.1:n.107+7621_107+7623del
ENST00000482958.1:c.1341_1343del	ENSP00000419804.1:p.Tyr448del
ENST00000488954.1:c.107+7621_107+7623del	ENSP00000418504.1:n.107+7621_107+7623del
ENST00000497011.5:c.1341_1343del	ENSP00000419505.1:p.Tyr448del
NM_000055.2:c.1341_1343del	NP_000046.1:p.Tyr448del
XM_005247685.1:c.1464_1466del	XP_005247742.1:p.Tyr489del
NM_000055.3:c.1341_1343del	NP_000046.1:p.Tyr448del
NR_137635.1:n.159+7621_159+7623del
NR_137636.1:n.1508_1510del
NM_000055.4:c.1341_1343del MANE Select	NP_000046.1:p.Tyr448del
NR_137635.2:n.110+7621_110+7623del
NR_137636.2:n.1459_1461del