Canonical Allele Identifier: CA2759252881

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830183_165830191del , CM000665.2:g.165830183_165830191del	GRCh38
NC_000003.11:g.165547971_165547979del , CM000665.1:g.165547971_165547979del	GRCh37
NC_000003.10:g.167030665_167030673del	NCBI36
NG_009031.1:g.12276_12284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.844_852del MANE Select	ENSP00000264381.3:p.Arg282_Asn284del
ENST00000264381.7:c.844_852del	ENSP00000264381.3:p.Arg282_Asn284del
ENST00000479451.5:c.107+7124_107+7132del	ENSP00000418325.1:n.107+7124_107+7132del
ENST00000482958.1:c.844_852del	ENSP00000419804.1:p.Arg282_Asn284del
ENST00000488954.1:c.107+7124_107+7132del	ENSP00000418504.1:n.107+7124_107+7132del
ENST00000497011.5:c.844_852del	ENSP00000419505.1:p.Arg282_Asn284del
NM_000055.2:c.844_852del	NP_000046.1:p.Arg282_Asn284del
XM_005247685.1:c.967_975del	XP_005247742.1:p.Arg323_Asn325del
NM_000055.3:c.844_852del	NP_000046.1:p.Arg282_Asn284del
NR_137635.1:n.159+7124_159+7132del
NR_137636.1:n.1011_1019del
NM_000055.4:c.844_852del MANE Select	NP_000046.1:p.Arg282_Asn284del
NR_137635.2:n.110+7124_110+7132del
NR_137636.2:n.962_970del