Canonical Allele Identifier: CA1417760706

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830494_165830508delinsTCCTAGGGCACCCAC , CM000665.2:g.165830494_165830508delinsTCCTAGGGCACCCAC	GRCh38
NC_000003.11:g.165548282_165548296delinsTCCTAGGGCACCCAC , CM000665.1:g.165548282_165548296delinsTCCTAGGGCACCCAC	GRCh37
NC_000003.10:g.167030976_167030990delinsTCCTAGGGCACCCAC	NCBI36
NG_009031.1:g.11958_11972delinsGTGGGTGCCCTAGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.526_540delinsGTGGGTGCCCTAGGA MANE Select	ENSP00000264381.3:p.Val176=
ENST00000264381.7:c.526_540delinsGTGGGTGCCCTAGGA	ENSP00000264381.3:p.Val176=
ENST00000479451.5:c.107+6806_107+6820delinsGTGGGTGCCCTAGGA	ENSP00000418325.1:n.107+6806_107+6820deli...
ENST00000482958.1:c.526_540delinsGTGGGTGCCCTAGGA	ENSP00000419804.1:p.Val176=
ENST00000488954.1:c.107+6806_107+6820delinsGTGGGTGCCCTAGGA	ENSP00000418504.1:n.107+6806_107+6820deli...
ENST00000497011.5:c.526_540delinsGTGGGTGCCCTAGGA	ENSP00000419505.1:p.Val176=
NM_000055.2:c.526_540delinsGTGGGTGCCCTAGGA	NP_000046.1:p.Val176=
XM_005247685.1:c.649_663delinsGTGGGTGCCCTAGGA	XP_005247742.1:p.Val217=
NM_000055.3:c.526_540delinsGTGGGTGCCCTAGGA	NP_000046.1:p.Val176=
NR_137635.1:n.159+6806_159+6820delinsGTGGGTGCCCTAGGA
NR_137636.1:n.693_707delinsGTGGGTGCCCTAGGA
NM_000055.4:c.526_540delinsGTGGGTGCCCTAGGA MANE Select	NP_000046.1:p.Val176=
NR_137635.2:n.110+6806_110+6820delinsGTGGGTGCCCTAGGA
NR_137636.2:n.644_658delinsGTGGGTGCCCTAGGA