Canonical Allele Identifier: CA1417759649

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829859_165829863delinsAACTC , CM000665.2:g.165829859_165829863delinsAACTC	GRCh38
NC_000003.11:g.165547647_165547651delinsAACTC , CM000665.1:g.165547647_165547651delinsAACTC	GRCh37
NC_000003.10:g.167030341_167030345delinsAACTC	NCBI36
NG_009031.1:g.12603_12607delinsGAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1171_1175delinsGAGTT MANE Select	ENSP00000264381.3:p.Glu391=
ENST00000264381.7:c.1171_1175delinsGAGTT	ENSP00000264381.3:p.Glu391=
ENST00000479451.5:c.107+7451_107+7455delinsGAGTT	ENSP00000418325.1:n.107+7451_107+7455delinsGAGTT
ENST00000482958.1:c.1171_1175delinsGAGTT	ENSP00000419804.1:p.Glu391=
ENST00000488954.1:c.107+7451_107+7455delinsGAGTT	ENSP00000418504.1:n.107+7451_107+7455delinsGAGTT
ENST00000497011.5:c.1171_1175delinsGAGTT	ENSP00000419505.1:p.Glu391=
NM_000055.2:c.1171_1175delinsGAGTT	NP_000046.1:p.Glu391=
XM_005247685.1:c.1294_1298delinsGAGTT	XP_005247742.1:p.Glu432=
NM_000055.3:c.1171_1175delinsGAGTT	NP_000046.1:p.Glu391=
NR_137635.1:n.159+7451_159+7455delinsGAGTT
NR_137636.1:n.1338_1342delinsGAGTT
NM_000055.4:c.1171_1175delinsGAGTT MANE Select	NP_000046.1:p.Glu391=
NR_137635.2:n.110+7451_110+7455delinsGAGTT
NR_137636.2:n.1289_1293delinsGAGTT