Canonical Allele Identifier: CA2244628596

Gene: ENO3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955418_4955419delinsCT , CM000679.2:g.4955418_4955419delinsCT	GRCh38
NC_000017.10:g.4858713_4858714delinsCT , CM000679.1:g.4858713_4858714delinsCT	GRCh37
NC_000017.9:g.4799459_4799460delinsCT	NCBI36
NG_012063.2:g.14328_14329delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.679_680delinsCT MANE Select	ENSP00000430055.2:p.Leu227=
ENST00000323997.10:c.679_680delinsCT	ENSP00000324105.6:p.Leu227=
ENST00000518175.1:c.679_680delinsCT	ENSP00000431087.1:p.Leu227=
ENST00000519584.5:c.550_551delinsCT	ENSP00000430636.1:p.Leu184=
ENST00000519602.5:c.679_680delinsCT	ENSP00000430055.1:p.Leu227=
ENST00000521659.5:c.*625_*626delinsCT	ENSP00000430554.1:n.*625_*626delinsCT
NM_001193503.1:c.550_551delinsCT	NP_001180432.1:p.Leu184=
NM_001976.4:c.679_680delinsCT	NP_001967.3:p.Leu227=
NM_053013.3:c.679_680delinsCT	NP_443739.3:p.Leu227=
XM_005256521.2:c.706_707delinsCT	XP_005256578.1:p.Leu236=
XM_011523729.1:c.679_680delinsCT	XP_011522031.1:p.Leu227=
XM_017024346.2:c.679_680delinsCT	XP_016879835.1:p.Leu227=
NM_001193503.2:c.550_551delinsCT	NP_001180432.1:p.Leu184=
NM_001374523.1:c.679_680delinsCT	NP_001361452.1:p.Leu227=
NM_001374524.1:c.706_707delinsCT	NP_001361453.1:p.Leu236=
NM_001976.5:c.679_680delinsCT	NP_001967.3:p.Leu227=
NM_053013.4:c.679_680delinsCT MANE Select	NP_443739.3:p.Leu227=