Canonical Allele Identifier: CA1417759714

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829924_165829927delinsATTG , CM000665.2:g.165829924_165829927delinsATTG	GRCh38
NC_000003.11:g.165547712_165547715delinsATTG , CM000665.1:g.165547712_165547715delinsATTG	GRCh37
NC_000003.10:g.167030406_167030409delinsATTG	NCBI36
NG_009031.1:g.12539_12542delinsCAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1107_1110delinsCAAT MANE Select	ENSP00000264381.3:p.Asn369=
ENST00000264381.7:c.1107_1110delinsCAAT	ENSP00000264381.3:p.Asn369=
ENST00000479451.5:c.107+7387_107+7390delinsCAAT	ENSP00000418325.1:n.107+7387_107+7390delinsCAAT
ENST00000482958.1:c.1107_1110delinsCAAT	ENSP00000419804.1:p.Asn369=
ENST00000488954.1:c.107+7387_107+7390delinsCAAT	ENSP00000418504.1:n.107+7387_107+7390delinsCAAT
ENST00000497011.5:c.1107_1110delinsCAAT	ENSP00000419505.1:p.Asn369=
NM_000055.2:c.1107_1110delinsCAAT	NP_000046.1:p.Asn369=
XM_005247685.1:c.1230_1233delinsCAAT	XP_005247742.1:p.Asn410=
NM_000055.3:c.1107_1110delinsCAAT	NP_000046.1:p.Asn369=
NR_137635.1:n.159+7387_159+7390delinsCAAT
NR_137636.1:n.1274_1277delinsCAAT
NM_000055.4:c.1107_1110delinsCAAT MANE Select	NP_000046.1:p.Asn369=
NR_137635.2:n.110+7387_110+7390delinsCAAT
NR_137636.2:n.1225_1228delinsCAAT