Canonical Allele Identifier: CA8316396

Gene: ENO3

Linked Data

• ClinVar Variation Id: 1442371
• ClinVar RCV Id: RCV001952967
• dbSNP Id: rs757486701
• ExAC: 17:4858724 C / CATCCAGGCGGCTGGTT
• gnomAD v2: 17-4858724-C-CATCCAGGCGGCTGGTT
• gnomAD v3: 17-4955429-C-CATCCAGGCGGCTGGTT
• gnomAD v4: 17-4955429-C-CATCCAGGCGGCTGGTT
• MyVariant Identifiers: chr17:g.4858724_4858725insATCCAGGCGGCTGGTT (hg19) ; chr17:g.4955429_4955430insATCCAGGCGGCTGGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955431_4955446dup , CM000679.2:g.4955431_4955446dup	GRCh38
NC_000017.10:g.4858726_4858741dup , CM000679.1:g.4858726_4858741dup	GRCh37
NC_000017.9:g.4799472_4799487dup	NCBI36
NG_012063.2:g.14341_14356dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.692_707dup MANE Select	ENSP00000430055.2:p.Asp238GlyfsTer18
ENST00000323997.10:c.692_707dup	ENSP00000324105.6:p.Asp238GlyfsTer18
ENST00000518175.1:c.692_707dup	ENSP00000431087.1:p.Asp238GlyfsTer18
ENST00000519584.5:c.563_578dup	ENSP00000430636.1:p.Asp195GlyfsTer18
ENST00000519602.5:c.692_707dup	ENSP00000430055.1:p.Asp238GlyfsTer18
ENST00000521659.5:c.*638_*653dup	ENSP00000430554.1:n.*638_*653dup
NM_001193503.1:c.563_578dup	NP_001180432.1:p.Asp195GlyfsTer18
NM_001976.4:c.692_707dup	NP_001967.3:p.Asp238GlyfsTer18
NM_053013.3:c.692_707dup	NP_443739.3:p.Asp238GlyfsTer18
XM_005256521.2:c.719_734dup	XP_005256578.1:p.Asp247GlyfsTer18
XM_011523729.1:c.692_707dup	XP_011522031.1:p.Asp238GlyfsTer18
XM_017024346.2:c.692_707dup	XP_016879835.1:p.Asp238GlyfsTer18
NM_001193503.2:c.563_578dup	NP_001180432.1:p.Asp195GlyfsTer18
NM_001374523.1:c.692_707dup	NP_001361452.1:p.Asp238GlyfsTer18
NM_001374524.1:c.719_734dup	NP_001361453.1:p.Asp247GlyfsTer18
NM_001976.5:c.692_707dup	NP_001967.3:p.Asp238GlyfsTer18
NM_053013.4:c.692_707dup MANE Select	NP_443739.3:p.Asp238GlyfsTer18