Canonical Allele Identifier: CA645531106

Gene: BCHE

Linked Data

• COSMIC: COSM5960176

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830185dup , CM000665.2:g.165830185dup	GRCh38
NC_000003.11:g.165547973dup , CM000665.1:g.165547973dup	GRCh37
NC_000003.10:g.167030667dup	NCBI36
NG_009031.1:g.12281dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.849dup MANE Select	ENSP00000264381.3:p.Asn284GlufsTer2
ENST00000264381.7:c.849dup	ENSP00000264381.3:p.Asn284GlufsTer2
ENST00000479451.5:c.107+7129dup	ENSP00000418325.1:n.107+7129dup
ENST00000482958.1:c.849dup	ENSP00000419804.1:p.Asn284GlufsTer2
ENST00000488954.1:c.107+7129dup	ENSP00000418504.1:n.107+7129dup
ENST00000497011.5:c.849dup	ENSP00000419505.1:p.Asn284GlufsTer2
NM_000055.2:c.849dup	NP_000046.1:p.Asn284GlufsTer2
XM_005247685.1:c.972dup	XP_005247742.1:p.Asn325GlufsTer2
NM_000055.3:c.849dup	NP_000046.1:p.Asn284GlufsTer2
NR_137635.1:n.159+7129dup
NR_137636.1:n.1016dup
NM_000055.4:c.849dup MANE Select	NP_000046.1:p.Asn284GlufsTer2
NR_137635.2:n.110+7129dup
NR_137636.2:n.967dup