Canonical Allele Identifier: CA624856855

Gene: ENO3

Linked Data

• dbSNP Id: rs1224869775
• gnomAD v2: 17-4858753-TGGTG-T
• gnomAD v4: 17-4955458-TGGTG-T
• MyVariant Identifiers: chr17:g.4858754_4858757del (hg19) ; chr17:g.4955459_4955462del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955459_4955462del , CM000679.2:g.4955459_4955462del	GRCh38
NC_000017.10:g.4858754_4858757del , CM000679.1:g.4858754_4858757del	GRCh37
NC_000017.9:g.4799500_4799503del	NCBI36
NG_012063.2:g.14369_14372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.720_723del MANE Select	ENSP00000430055.2:p.Val241SerfsTer?
ENST00000323997.10:c.720_723del	ENSP00000324105.6:p.Val241SerfsTer?
ENST00000518175.1:c.720_723del	ENSP00000431087.1:p.Val241SerfsTer?
ENST00000519584.5:c.591_594del	ENSP00000430636.1:p.Val198SerfsTer?
ENST00000519602.5:c.720_723del	ENSP00000430055.1:p.Val241SerfsTer?
ENST00000521659.5:c.*666_*669del	ENSP00000430554.1:n.*666_*669del
NM_001193503.1:c.591_594del	NP_001180432.1:p.Val198SerfsTer?
NM_001976.4:c.720_723del	NP_001967.3:p.Val241SerfsTer?
NM_053013.3:c.720_723del	NP_443739.3:p.Val241SerfsTer?
XM_005256521.2:c.747_750del	XP_005256578.1:p.Val250SerfsTer?
XM_011523729.1:c.720_723del	XP_011522031.1:p.Val241SerfsTer?
XM_017024346.2:c.720_723del	XP_016879835.1:p.Val241SerfsTer?
NM_001193503.2:c.591_594del	NP_001180432.1:p.Val198SerfsTer?
NM_001374523.1:c.720_723del	NP_001361452.1:p.Val241SerfsTer?
NM_001374524.1:c.747_750del	NP_001361453.1:p.Val250SerfsTer?
NM_001976.5:c.720_723del	NP_001967.3:p.Val241SerfsTer?
NM_053013.4:c.720_723del MANE Select	NP_443739.3:p.Val241SerfsTer?