Canonical Allele Identifier: CA2759252884

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830897_165830898insGAACAT , CM000665.2:g.165830897_165830898insGAACAT	GRCh38
NC_000003.11:g.165548685_165548686insGAACAT , CM000665.1:g.165548685_165548686insGAACAT	GRCh37
NC_000003.10:g.167031379_167031380insGAACAT	NCBI36
NG_009031.1:g.11568_11569insATGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.136_137insATGTTC MANE Select	ENSP00000264381.3:p.Asn45_Leu46insTyrVal
ENST00000264381.7:c.136_137insATGTTC	ENSP00000264381.3:p.Asn45_Leu46insTyrVal
ENST00000479451.5:c.107+6416_107+6417insATGTTC	ENSP00000418325.1:n.107+6416_107+6417insATGTTC
ENST00000482958.1:c.136_137insATGTTC	ENSP00000419804.1:p.Asn45_Leu46insTyrVal
ENST00000488954.1:c.107+6416_107+6417insATGTTC	ENSP00000418504.1:n.107+6416_107+6417insATGTTC
ENST00000497011.5:c.136_137insATGTTC	ENSP00000419505.1:p.Asn45_Leu46insTyrVal
NM_000055.2:c.136_137insATGTTC	NP_000046.1:p.Asn45_Leu46insTyrVal
XM_005247685.1:c.259_260insATGTTC	XP_005247742.1:p.Asn86_Leu87insTyrVal
NM_000055.3:c.136_137insATGTTC	NP_000046.1:p.Asn45_Leu46insTyrVal
NR_137635.1:n.159+6416_159+6417insATGTTC
NR_137636.1:n.303_304insATGTTC
NM_000055.4:c.136_137insATGTTC MANE Select	NP_000046.1:p.Asn45_Leu46insTyrVal
NR_137635.2:n.110+6416_110+6417insATGTTC
NR_137636.2:n.254_255insATGTTC