Canonical Allele Identifier: CA2244628587

Gene: ENO3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955408_4955410delinsCCT , CM000679.2:g.4955408_4955410delinsCCT	GRCh38
NC_000017.10:g.4858703_4858705delinsCCT , CM000679.1:g.4858703_4858705delinsCCT	GRCh37
NC_000017.9:g.4799449_4799451delinsCCT	NCBI36
NG_012063.2:g.14318_14320delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.669_671delinsCCT MANE Select	ENSP00000430055.2:p.Ala223=
ENST00000323997.10:c.669_671delinsCCT	ENSP00000324105.6:p.Ala223=
ENST00000518175.1:c.669_671delinsCCT	ENSP00000431087.1:p.Ala223=
ENST00000519584.5:c.540_542delinsCCT	ENSP00000430636.1:p.Ala180=
ENST00000519602.5:c.669_671delinsCCT	ENSP00000430055.1:p.Ala223=
ENST00000521659.5:c.*615_*617delinsCCT	ENSP00000430554.1:n.*615_*617delinsCCT
NM_001193503.1:c.540_542delinsCCT	NP_001180432.1:p.Ala180=
NM_001976.4:c.669_671delinsCCT	NP_001967.3:p.Ala223=
NM_053013.3:c.669_671delinsCCT	NP_443739.3:p.Ala223=
XM_005256521.2:c.696_698delinsCCT	XP_005256578.1:p.Ala232=
XM_011523729.1:c.669_671delinsCCT	XP_011522031.1:p.Ala223=
XM_017024346.2:c.669_671delinsCCT	XP_016879835.1:p.Ala223=
NM_001193503.2:c.540_542delinsCCT	NP_001180432.1:p.Ala180=
NM_001374523.1:c.669_671delinsCCT	NP_001361452.1:p.Ala223=
NM_001374524.1:c.696_698delinsCCT	NP_001361453.1:p.Ala232=
NM_001976.5:c.669_671delinsCCT	NP_001967.3:p.Ala223=
NM_053013.4:c.669_671delinsCCT MANE Select	NP_443739.3:p.Ala223=