Canonical Allele Identifier: CA8316136

Gene: ENO3

Linked Data

• ClinVar Variation Id: 324135
• ClinVar RCV Id: RCV000338949 ; RCV000675377
• dbSNP Id: rs151153333
• ExAC: 17:4856084 TC / T
• gnomAD v2: 17-4856084-TC-T
• gnomAD v3: 17-4952789-TC-T
• gnomAD v4: 17-4952789-TC-T
• MyVariant Identifiers: chr17:g.4856087del (hg19) ; chr17:g.4856085del (hg19) ; chr17:g.4952792del (hg38) ; chr17:g.4952791del (hg38) ; chr17:g.4952790del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4952792del , CM000679.2:g.4952792del	GRCh38
NC_000017.10:g.4856087del , CM000679.1:g.4856087del	GRCh37
NC_000017.9:g.4796833del	NCBI36
NG_012063.2:g.11702del
NG_032945.1:g.1297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.86-3del MANE Select	ENSP00000430055.2:n.86-3del
ENST00000323997.10:c.86-3del	ENSP00000324105.6:n.86-3del
ENST00000518175.1:c.86-3del	ENSP00000431087.1:n.86-3del
ENST00000519584.5:c.86-3del	ENSP00000430636.1:n.86-3del
ENST00000519602.5:c.86-3del	ENSP00000430055.1:n.86-3del
ENST00000519834.5:n.152-3del
ENST00000520221.5:c.86-3del	ENSP00000467444.1:n.86-3del
ENST00000521659.5:c.*32-3del	ENSP00000430554.1:n.*32-3del
ENST00000521811.5:c.86-3del	ENSP00000464874.1:n.86-3del
ENST00000522249.5:c.86-3del	ENSP00000428811.1:n.86-3del
ENST00000522301.5:c.86-3del	ENSP00000465697.1:n.86-3del
ENST00000522798.5:c.86-3del	ENSP00000428502.1:n.86-3del
ENST00000571235.5:n.152-3del
NM_001193503.1:c.86-3del	NP_001180432.1:n.86-3del
NM_001976.4:c.86-3del	NP_001967.3:n.86-3del
NM_053013.3:c.86-3del	NP_443739.3:n.86-3del
XM_005256521.2:c.113-3del	XP_005256578.1:n.113-3del
XM_011523729.1:c.86-3del	XP_011522031.1:n.86-3del
XM_017024346.2:c.86-3del	XP_016879835.1:n.86-3del
NM_001193503.2:c.86-3del	NP_001180432.1:n.86-3del
NM_001374523.1:c.86-3del	NP_001361452.1:n.86-3del
NM_001374524.1:c.113-3del	NP_001361453.1:n.113-3del
NM_001976.5:c.86-3del	NP_001967.3:n.86-3del
NM_053013.4:c.86-3del MANE Select	NP_443739.3:n.86-3del