Canonical Allele Identifier: CA2537132551
Gene: ENO3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4955223_4955224del , CM000679.2:g.4955223_4955224del GRCh38
NC_000017.10:g.4858518_4858519del , CM000679.1:g.4858518_4858519del GRCh37
NC_000017.9:g.4799264_4799265del NCBI36
NG_012063.2:g.14133_14134del

Transcript Alleles

HGVS Amino-acid Change
ENST00000519602.6:c.593_594del MANE Select ENSP00000430055.2:p.Ala198GlufsTer11
ENST00000323997.10:c.593_594del ENSP00000324105.6:p.Ala198GlufsTer11
ENST00000518175.1:c.593_594del ENSP00000431087.1:p.Ala198GlufsTer11
ENST00000519584.5:c.464_465del ENSP00000430636.1:p.Ala155GlufsTer11
ENST00000519602.5:c.593_594del ENSP00000430055.1:p.Ala198GlufsTer11
ENST00000521659.5:c.*539_*540del ENSP00000430554.1:n.*539_*540del
ENST00000522301.5:c.593_594del ENSP00000465697.1:p.Ala198GlufsTer11
NM_001193503.1:c.464_465del NP_001180432.1:p.Ala155GlufsTer11
NM_001976.4:c.593_594del NP_001967.3:p.Ala198GlufsTer11
NM_053013.3:c.593_594del NP_443739.3:p.Ala198GlufsTer11
XM_005256521.2:c.620_621del XP_005256578.1:p.Ala207GlufsTer11
XM_011523729.1:c.593_594del XP_011522031.1:p.Ala198GlufsTer11
XM_017024346.2:c.593_594del XP_016879835.1:p.Ala198GlufsTer11
NM_001193503.2:c.464_465del NP_001180432.1:p.Ala155GlufsTer11
NM_001374523.1:c.593_594del NP_001361452.1:p.Ala198GlufsTer11
NM_001374524.1:c.620_621del NP_001361453.1:p.Ala207GlufsTer11
NM_001976.5:c.593_594del NP_001967.3:p.Ala198GlufsTer11
NM_053013.4:c.593_594del MANE Select NP_443739.3:p.Ala198GlufsTer11