Canonical Allele Identifier: CA1417760950

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830992_165830997delinsAAAGAG , CM000665.2:g.165830992_165830997delinsAAAGAG	GRCh38
NC_000003.11:g.165548780_165548785delinsAAAGAG , CM000665.1:g.165548780_165548785delinsAAAGAG	GRCh37
NC_000003.10:g.167031474_167031479delinsAAAGAG	NCBI36
NG_009031.1:g.11469_11474delinsCTCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.37_42delinsCTCTTT MANE Select	ENSP00000264381.3:p.Leu13=
ENST00000264381.7:c.37_42delinsCTCTTT	ENSP00000264381.3:p.Leu13=
ENST00000479451.5:c.107+6317_107+6322delinsCTCTTT	ENSP00000418325.1:n.107+6317_107+6322delinsCTCTTT
ENST00000482958.1:c.37_42delinsCTCTTT	ENSP00000419804.1:p.Leu13=
ENST00000488954.1:c.107+6317_107+6322delinsCTCTTT	ENSP00000418504.1:n.107+6317_107+6322delinsCTCTTT
ENST00000497011.5:c.37_42delinsCTCTTT	ENSP00000419505.1:p.Leu13=
NM_000055.2:c.37_42delinsCTCTTT	NP_000046.1:p.Leu13=
XM_005247685.1:c.160_165delinsCTCTTT	XP_005247742.1:p.Leu54=
NM_000055.3:c.37_42delinsCTCTTT	NP_000046.1:p.Leu13=
NR_137635.1:n.159+6317_159+6322delinsCTCTTT
NR_137636.1:n.204_209delinsCTCTTT
NM_000055.4:c.37_42delinsCTCTTT MANE Select	NP_000046.1:p.Leu13=
NR_137635.2:n.110+6317_110+6322delinsCTCTTT
NR_137636.2:n.155_160delinsCTCTTT