Canonical Allele Identifier: CA2542142739

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786301_165786302insT , CM000665.2:g.165786301_165786302insT	GRCh38
NC_000003.11:g.165504089_165504090insT , CM000665.1:g.165504089_165504090insT	GRCh37
NC_000003.10:g.166986783_166986784insT	NCBI36
NG_009031.1:g.56164_56165insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1527_1528insA MANE Select	ENSP00000264381.3:p.Glu510ArgfsTer6
ENST00000264381.7:c.1527_1528insA	ENSP00000264381.3:p.Glu510ArgfsTer6
ENST00000479451.5:c.117_118insA	ENSP00000418325.1:p.Glu40ArgfsTer6
ENST00000482958.1:c.*33_*34insA	ENSP00000419804.1:n.*33_*34insA
ENST00000488954.1:c.117_118insA	ENSP00000418504.1:p.Glu40ArgfsTer6
ENST00000497011.5:c.1527_1528insA	ENSP00000419505.1:p.Glu510ArgfsTer6
NM_000055.2:c.1527_1528insA	NP_000046.1:p.Glu510ArgfsTer6
XM_005247685.1:c.1650_1651insA	XP_005247742.1:p.Glu551ArgfsTer6
NM_000055.3:c.1527_1528insA	NP_000046.1:p.Glu510ArgfsTer6
NR_137635.1:n.169_170insA
NR_137636.1:n.1694_1695insA
NM_000055.4:c.1527_1528insA MANE Select	NP_000046.1:p.Glu510ArgfsTer6
NR_137635.2:n.120_121insA
NR_137636.2:n.1645_1646insA