Canonical Allele Identifier: CA1417759588

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829807_165829808delinsTC , CM000665.2:g.165829807_165829808delinsTC	GRCh38
NC_000003.11:g.165547595_165547596delinsTC , CM000665.1:g.165547595_165547596delinsTC	GRCh37
NC_000003.10:g.167030289_167030290delinsTC	NCBI36
NG_009031.1:g.12658_12659delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1226_1227delinsGA MANE Select	ENSP00000264381.3:p.Arg409=
ENST00000264381.7:c.1226_1227delinsGA	ENSP00000264381.3:p.Arg409=
ENST00000479451.5:c.107+7506_107+7507delinsGA	ENSP00000418325.1:n.107+7506_107+7507deli...
ENST00000482958.1:c.1226_1227delinsGA	ENSP00000419804.1:p.Arg409=
ENST00000488954.1:c.107+7506_107+7507delinsGA	ENSP00000418504.1:n.107+7506_107+7507deli...
ENST00000497011.5:c.1226_1227delinsGA	ENSP00000419505.1:p.Arg409=
NM_000055.2:c.1226_1227delinsGA	NP_000046.1:p.Arg409=
XM_005247685.1:c.1349_1350delinsGA	XP_005247742.1:p.Arg450=
NM_000055.3:c.1226_1227delinsGA	NP_000046.1:p.Arg409=
NR_137635.1:n.159+7506_159+7507delinsGA
NR_137636.1:n.1393_1394delinsGA
NM_000055.4:c.1226_1227delinsGA MANE Select	NP_000046.1:p.Arg409=
NR_137635.2:n.110+7506_110+7507delinsGA
NR_137636.2:n.1344_1345delinsGA