Canonical Allele Identifier: CA1417759274

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829641_165829643delinsTCA , CM000665.2:g.165829641_165829643delinsTCA	GRCh38
NC_000003.11:g.165547429_165547431delinsTCA , CM000665.1:g.165547429_165547431delinsTCA	GRCh37
NC_000003.10:g.167030123_167030125delinsTCA	NCBI36
NG_009031.1:g.12823_12825delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1391_1393delinsTGA MANE Select	ENSP00000264381.3:p.Val464=
ENST00000264381.7:c.1391_1393delinsTGA	ENSP00000264381.3:p.Val464=
ENST00000479451.5:c.107+7671_107+7673delinsTGA	ENSP00000418325.1:n.107+7671_107+7673delinsTGA
ENST00000482958.1:c.1391_1393delinsTGA	ENSP00000419804.1:p.Val464=
ENST00000488954.1:c.107+7671_107+7673delinsTGA	ENSP00000418504.1:n.107+7671_107+7673delinsTGA
ENST00000497011.5:c.1391_1393delinsTGA	ENSP00000419505.1:p.Val464=
NM_000055.2:c.1391_1393delinsTGA	NP_000046.1:p.Val464=
XM_005247685.1:c.1514_1516delinsTGA	XP_005247742.1:p.Val505=
NM_000055.3:c.1391_1393delinsTGA	NP_000046.1:p.Val464=
NR_137635.1:n.159+7671_159+7673delinsTGA
NR_137636.1:n.1558_1560delinsTGA
NM_000055.4:c.1391_1393delinsTGA MANE Select	NP_000046.1:p.Val464=
NR_137635.2:n.110+7671_110+7673delinsTGA
NR_137636.2:n.1509_1511delinsTGA