Canonical Allele Identifier: CA8316403

Gene: ENO3

Linked Data

• ClinVar Variation Id: 422015
• ClinVar RCV Id: RCV000482153 ; RCV002526620
• dbSNP Id: rs778664924
• ExAC: 17:4858741 AC / A
• gnomAD v2: 17-4858741-AC-A
• gnomAD v3: 17-4955446-AC-A
• gnomAD v4: 17-4955446-AC-A
• MyVariant Identifiers: chr17:g.4858744del (hg19) ; chr17:g.4858742del (hg19) ; chr17:g.4955449del (hg38) ; chr17:g.4955447del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955449del , CM000679.2:g.4955449del	GRCh38
NC_000017.10:g.4858744del , CM000679.1:g.4858744del	GRCh37
NC_000017.9:g.4799490del	NCBI36
NG_012063.2:g.14359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.710del MANE Select	ENSP00000430055.2:p.Pro237GlnfsTer5
ENST00000323997.10:c.710del	ENSP00000324105.6:p.Pro237GlnfsTer5
ENST00000518175.1:c.710del	ENSP00000431087.1:p.Pro237GlnfsTer5
ENST00000519584.5:c.581del	ENSP00000430636.1:p.Pro194GlnfsTer5
ENST00000519602.5:c.710del	ENSP00000430055.1:p.Pro237GlnfsTer5
ENST00000521659.5:c.*656del	ENSP00000430554.1:n.*656del
NM_001193503.1:c.581del	NP_001180432.1:p.Pro194GlnfsTer5
NM_001976.4:c.710del	NP_001967.3:p.Pro237GlnfsTer5
NM_053013.3:c.710del	NP_443739.3:p.Pro237GlnfsTer5
XM_005256521.2:c.737del	XP_005256578.1:p.Pro246GlnfsTer5
XM_011523729.1:c.710del	XP_011522031.1:p.Pro237GlnfsTer5
XM_017024346.2:c.710del	XP_016879835.1:p.Pro237GlnfsTer5
NM_001193503.2:c.581del	NP_001180432.1:p.Pro194GlnfsTer5
NM_001374523.1:c.710del	NP_001361452.1:p.Pro237GlnfsTer5
NM_001374524.1:c.737del	NP_001361453.1:p.Pro246GlnfsTer5
NM_001976.5:c.710del	NP_001967.3:p.Pro237GlnfsTer5
NM_053013.4:c.710del MANE Select	NP_443739.3:p.Pro237GlnfsTer5