Canonical Allele Identifier: CA2577772734

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829505dup , CM000665.2:g.165829505dup	GRCh38
NC_000003.11:g.165547293dup , CM000665.1:g.165547293dup	GRCh37
NC_000003.10:g.167029987dup	NCBI36
NG_009031.1:g.12965dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1517+16dup MANE Select	ENSP00000264381.3:n.1517+16dup
ENST00000264381.7:c.1517+16dup	ENSP00000264381.3:n.1517+16dup
ENST00000479451.5:c.107+7813dup	ENSP00000418325.1:n.107+7813dup
ENST00000482958.1:c.1517+16dup	ENSP00000419804.1:n.1517+16dup
ENST00000488954.1:c.107+7813dup	ENSP00000418504.1:n.107+7813dup
ENST00000497011.5:c.1517+16dup	ENSP00000419505.1:n.1517+16dup
NM_000055.2:c.1517+16dup	NP_000046.1:n.1517+16dup
XM_005247685.1:c.1640+16dup	XP_005247742.1:n.1640+16dup
NM_000055.3:c.1517+16dup	NP_000046.1:n.1517+16dup
NR_137635.1:n.159+7813dup
NR_137636.1:n.1684+16dup
NM_000055.4:c.1517+16dup MANE Select	NP_000046.1:n.1517+16dup
NR_137635.2:n.110+7813dup
NR_137636.2:n.1635+16dup