Canonical Allele Identifier: CA2586973133

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830939_165830941del , CM000665.2:g.165830939_165830941del	GRCh38
NC_000003.11:g.165548727_165548729del , CM000665.1:g.165548727_165548729del	GRCh37
NC_000003.10:g.167031421_167031423del	NCBI36
NG_009031.1:g.11528_11530del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.96_98del MANE Select	ENSP00000264381.3:p.Ile33del
ENST00000264381.7:c.96_98del	ENSP00000264381.3:p.Ile33del
ENST00000479451.5:c.107+6376_107+6378del	ENSP00000418325.1:n.107+6376_107+6378del
ENST00000482958.1:c.96_98del	ENSP00000419804.1:p.Ile33del
ENST00000488954.1:c.107+6376_107+6378del	ENSP00000418504.1:n.107+6376_107+6378del
ENST00000497011.5:c.96_98del	ENSP00000419505.1:p.Ile33del
NM_000055.2:c.96_98del	NP_000046.1:p.Ile33del
XM_005247685.1:c.219_221del	XP_005247742.1:p.Ile74del
NM_000055.3:c.96_98del	NP_000046.1:p.Ile33del
NR_137635.1:n.159+6376_159+6378del
NR_137636.1:n.263_265del
NM_000055.4:c.96_98del MANE Select	NP_000046.1:p.Ile33del
NR_137635.2:n.110+6376_110+6378del
NR_137636.2:n.214_216del