Canonical Allele Identifier: CA1417760713

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830496_165830512delinsCTAGGGCACCCACCCTA , CM000665.2:g.165830496_165830512delinsCTAGGGCACCCACCCTA	GRCh38
NC_000003.11:g.165548284_165548300delinsCTAGGGCACCCACCCTA , CM000665.1:g.165548284_165548300delinsCTAGGGCACCCACCCTA	GRCh37
NC_000003.10:g.167030978_167030994delinsCTAGGGCACCCACCCTA	NCBI36
NG_009031.1:g.11954_11970delinsTAGGGTGGGTGCCCTAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.522_538delinsTAGGGTGGGTGCCCTAG MANE Select	ENSP00000264381.3:p.Tyr174=
ENST00000264381.7:c.522_538delinsTAGGGTGGGTGCCCTAG	ENSP00000264381.3:p.Tyr174=
ENST00000479451.5:c.107+6802_107+6818delinsTAGGGTGGGTGCCCTAG	ENSP00000418325.1:n.107+6802_107+6818deli...
ENST00000482958.1:c.522_538delinsTAGGGTGGGTGCCCTAG	ENSP00000419804.1:p.Tyr174=
ENST00000488954.1:c.107+6802_107+6818delinsTAGGGTGGGTGCCCTAG	ENSP00000418504.1:n.107+6802_107+6818deli...
ENST00000497011.5:c.522_538delinsTAGGGTGGGTGCCCTAG	ENSP00000419505.1:p.Tyr174=
NM_000055.2:c.522_538delinsTAGGGTGGGTGCCCTAG	NP_000046.1:p.Tyr174=
XM_005247685.1:c.645_661delinsTAGGGTGGGTGCCCTAG	XP_005247742.1:p.Tyr215=
NM_000055.3:c.522_538delinsTAGGGTGGGTGCCCTAG	NP_000046.1:p.Tyr174=
NR_137635.1:n.159+6802_159+6818delinsTAGGGTGGGTGCCCTAG
NR_137636.1:n.689_705delinsTAGGGTGGGTGCCCTAG
NM_000055.4:c.522_538delinsTAGGGTGGGTGCCCTAG MANE Select	NP_000046.1:p.Tyr174=
NR_137635.2:n.110+6802_110+6818delinsTAGGGTGGGTGCCCTAG
NR_137636.2:n.640_656delinsTAGGGTGGGTGCCCTAG