Canonical Allele Identifier: CA624856854
Gene: ENO3 HGNC NCBI

Linked Data

dbSNP Id: rs1388776490

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4955419del , CM000679.2:g.4955419del GRCh38
NC_000017.10:g.4858714del , CM000679.1:g.4858714del GRCh37
NC_000017.9:g.4799460del NCBI36
NG_012063.2:g.14329del

Transcript Alleles

HGVS Amino-acid Change
ENST00000519602.6:c.680del MANE Select ENSP00000430055.2:p.Leu227ArgfsTer15
ENST00000323997.10:c.680del ENSP00000324105.6:p.Leu227ArgfsTer15
ENST00000518175.1:c.680del ENSP00000431087.1:p.Leu227ArgfsTer15
ENST00000519584.5:c.551del ENSP00000430636.1:p.Leu184ArgfsTer15
ENST00000519602.5:c.680del ENSP00000430055.1:p.Leu227ArgfsTer15
ENST00000521659.5:c.*626del ENSP00000430554.1:n.*626del
NM_001193503.1:c.551del NP_001180432.1:p.Leu184ArgfsTer15
NM_001976.4:c.680del NP_001967.3:p.Leu227ArgfsTer15
NM_053013.3:c.680del NP_443739.3:p.Leu227ArgfsTer15
XM_005256521.2:c.707del XP_005256578.1:p.Leu236ArgfsTer15
XM_011523729.1:c.680del XP_011522031.1:p.Leu227ArgfsTer15
XM_017024346.2:c.680del XP_016879835.1:p.Leu227ArgfsTer15
NM_001193503.2:c.551del NP_001180432.1:p.Leu184ArgfsTer15
NM_001374523.1:c.680del NP_001361452.1:p.Leu227ArgfsTer15
NM_001374524.1:c.707del NP_001361453.1:p.Leu236ArgfsTer15
NM_001976.5:c.680del NP_001967.3:p.Leu227ArgfsTer15
NM_053013.4:c.680del MANE Select NP_443739.3:p.Leu227ArgfsTer15