Canonical Allele Identifier: CA1417759563

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829793_165829794delinsCG , CM000665.2:g.165829793_165829794delinsCG	GRCh38
NC_000003.11:g.165547581_165547582delinsCG , CM000665.1:g.165547581_165547582delinsCG	GRCh37
NC_000003.10:g.167030275_167030276delinsCG	NCBI36
NG_009031.1:g.12672_12673delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1240_1241delinsCG MANE Select	ENSP00000264381.3:p.Arg414=
ENST00000264381.7:c.1240_1241delinsCG	ENSP00000264381.3:p.Arg414=
ENST00000479451.5:c.107+7520_107+7521delinsCG	ENSP00000418325.1:n.107+7520_107+7521delinsCG
ENST00000482958.1:c.1240_1241delinsCG	ENSP00000419804.1:p.Arg414=
ENST00000488954.1:c.107+7520_107+7521delinsCG	ENSP00000418504.1:n.107+7520_107+7521delinsCG
ENST00000497011.5:c.1240_1241delinsCG	ENSP00000419505.1:p.Arg414=
NM_000055.2:c.1240_1241delinsCG	NP_000046.1:p.Arg414=
XM_005247685.1:c.1363_1364delinsCG	XP_005247742.1:p.Arg455=
NM_000055.3:c.1240_1241delinsCG	NP_000046.1:p.Arg414=
NR_137635.1:n.159+7520_159+7521delinsCG
NR_137636.1:n.1407_1408delinsCG
NM_000055.4:c.1240_1241delinsCG MANE Select	NP_000046.1:p.Arg414=
NR_137635.2:n.110+7520_110+7521delinsCG
NR_137636.2:n.1358_1359delinsCG