Canonical Allele Identifier: CA2808297892

Gene: ENO3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955293del , CM000679.2:g.4955293del	GRCh38
NC_000017.10:g.4858588del , CM000679.1:g.4858588del	GRCh37
NC_000017.9:g.4799334del	NCBI36
NG_012063.2:g.14203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.663del MANE Select	ENSP00000430055.2:p.Asn221LysfsTer7
ENST00000323997.10:c.663del	ENSP00000324105.6:p.Asn221LysfsTer7
ENST00000518175.1:c.663del	ENSP00000431087.1:p.Asn221LysfsTer7
ENST00000519584.5:c.534del	ENSP00000430636.1:p.Asn178LysfsTer7
ENST00000519602.5:c.663del	ENSP00000430055.1:p.Asn221LysfsTer7
ENST00000521659.5:c.*609del	ENSP00000430554.1:n.*609del
NM_001193503.1:c.534del	NP_001180432.1:p.Asn178LysfsTer7
NM_001976.4:c.663del	NP_001967.3:p.Asn221LysfsTer7
NM_053013.3:c.663del	NP_443739.3:p.Asn221LysfsTer7
XM_005256521.2:c.690del	XP_005256578.1:p.Asn230LysfsTer7
XM_011523729.1:c.663del	XP_011522031.1:p.Asn221LysfsTer7
XM_017024346.2:c.663del	XP_016879835.1:p.Asn221LysfsTer7
NM_001193503.2:c.534del	NP_001180432.1:p.Asn178LysfsTer7
NM_001374523.1:c.663del	NP_001361452.1:p.Asn221LysfsTer7
NM_001374524.1:c.690del	NP_001361453.1:p.Asn230LysfsTer7
NM_001976.5:c.663del	NP_001967.3:p.Asn221LysfsTer7
NM_053013.4:c.663del MANE Select	NP_443739.3:p.Asn221LysfsTer7