Canonical Allele Identifier: CA1417760060

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830155_165830163delinsTCTAAGACA , CM000665.2:g.165830155_165830163delinsTCTAAGACA	GRCh38
NC_000003.11:g.165547943_165547951delinsTCTAAGACA , CM000665.1:g.165547943_165547951delinsTCTAAGACA	GRCh37
NC_000003.10:g.167030637_167030645delinsTCTAAGACA	NCBI36
NG_009031.1:g.12303_12311delinsTGTCTTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.871_879delinsTGTCTTAGA MANE Select	ENSP00000264381.3:p.Cys291=
ENST00000264381.7:c.871_879delinsTGTCTTAGA	ENSP00000264381.3:p.Cys291=
ENST00000479451.5:c.107+7151_107+7159delinsTGTCTTAGA	ENSP00000418325.1:n.107+7151_107+7159delinsTGTCTTAGA
ENST00000482958.1:c.871_879delinsTGTCTTAGA	ENSP00000419804.1:p.Cys291=
ENST00000488954.1:c.107+7151_107+7159delinsTGTCTTAGA	ENSP00000418504.1:n.107+7151_107+7159delinsTGTCTTAGA
ENST00000497011.5:c.871_879delinsTGTCTTAGA	ENSP00000419505.1:p.Cys291=
NM_000055.2:c.871_879delinsTGTCTTAGA	NP_000046.1:p.Cys291=
XM_005247685.1:c.994_1002delinsTGTCTTAGA	XP_005247742.1:p.Cys332=
NM_000055.3:c.871_879delinsTGTCTTAGA	NP_000046.1:p.Cys291=
NR_137635.1:n.159+7151_159+7159delinsTGTCTTAGA
NR_137636.1:n.1038_1046delinsTGTCTTAGA
NM_000055.4:c.871_879delinsTGTCTTAGA MANE Select	NP_000046.1:p.Cys291=
NR_137635.2:n.110+7151_110+7159delinsTGTCTTAGA
NR_137636.2:n.989_997delinsTGTCTTAGA