Canonical Allele Identifier: CA1417760870

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830826_165830828delinsGAA , CM000665.2:g.165830826_165830828delinsGAA	GRCh38
NC_000003.11:g.165548614_165548616delinsGAA , CM000665.1:g.165548614_165548616delinsGAA	GRCh37
NC_000003.10:g.167031308_167031310delinsGAA	NCBI36
NG_009031.1:g.11638_11640delinsTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.206_208delinsTTC MANE Select	ENSP00000264381.3:p.Leu69=
ENST00000264381.7:c.206_208delinsTTC	ENSP00000264381.3:p.Leu69=
ENST00000479451.5:c.107+6486_107+6488delinsTTC	ENSP00000418325.1:n.107+6486_107+6488deli...
ENST00000482958.1:c.206_208delinsTTC	ENSP00000419804.1:p.Leu69=
ENST00000488954.1:c.107+6486_107+6488delinsTTC	ENSP00000418504.1:n.107+6486_107+6488deli...
ENST00000497011.5:c.206_208delinsTTC	ENSP00000419505.1:p.Leu69=
NM_000055.2:c.206_208delinsTTC	NP_000046.1:p.Leu69=
XM_005247685.1:c.329_331delinsTTC	XP_005247742.1:p.Leu110=
NM_000055.3:c.206_208delinsTTC	NP_000046.1:p.Leu69=
NR_137635.1:n.159+6486_159+6488delinsTTC
NR_137636.1:n.373_375delinsTTC
NM_000055.4:c.206_208delinsTTC MANE Select	NP_000046.1:p.Leu69=
NR_137635.2:n.110+6486_110+6488delinsTTC
NR_137636.2:n.324_326delinsTTC