Canonical Allele Identifier: CA624856831

Gene: ENO3

Linked Data

• gnomAD v2: 17-4858526-GGGAAGGA-G
• MyVariant Identifiers: chr17:g.4858527_4858533del (hg19) ; chr17:g.4955232_4955238del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955232_4955238del , CM000679.2:g.4955232_4955238del	GRCh38
NC_000017.10:g.4858527_4858533del , CM000679.1:g.4858527_4858533del	GRCh37
NC_000017.9:g.4799273_4799279del	NCBI36
NG_012063.2:g.14142_14148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.602_608del MANE Select	ENSP00000430055.2:p.Gly201ValfsTer25
ENST00000323997.10:c.602_608del	ENSP00000324105.6:p.Gly201ValfsTer25
ENST00000518175.1:c.602_608del	ENSP00000431087.1:p.Gly201ValfsTer25
ENST00000519584.5:c.473_479del	ENSP00000430636.1:p.Gly158ValfsTer25
ENST00000519602.5:c.602_608del	ENSP00000430055.1:p.Gly201ValfsTer25
ENST00000521659.5:c.*548_*554del	ENSP00000430554.1:n.*548_*554del
ENST00000522301.5:c.602_608del	ENSP00000465697.1:p.Gly201ValfsTer?
NM_001193503.1:c.473_479del	NP_001180432.1:p.Gly158ValfsTer25
NM_001976.4:c.602_608del	NP_001967.3:p.Gly201ValfsTer25
NM_053013.3:c.602_608del	NP_443739.3:p.Gly201ValfsTer25
XM_005256521.2:c.629_635del	XP_005256578.1:p.Gly210ValfsTer25
XM_011523729.1:c.602_608del	XP_011522031.1:p.Gly201ValfsTer25
XM_017024346.2:c.602_608del	XP_016879835.1:p.Gly201ValfsTer25
NM_001193503.2:c.473_479del	NP_001180432.1:p.Gly158ValfsTer25
NM_001374523.1:c.602_608del	NP_001361452.1:p.Gly201ValfsTer25
NM_001374524.1:c.629_635del	NP_001361453.1:p.Gly210ValfsTer25
NM_001976.5:c.602_608del	NP_001967.3:p.Gly201ValfsTer25
NM_053013.4:c.602_608del MANE Select	NP_443739.3:p.Gly201ValfsTer25