Canonical Allele Identifier: CA8316328

Gene: ENO3

Linked Data

• dbSNP Id: rs755516014
• ExAC: 17:4858387 C / CG
• gnomAD v2: 17-4858387-C-CG
• gnomAD v4: 17-4955092-C-CG
• MyVariant Identifiers: chr17:g.4858387_4858388insG (hg19) ; chr17:g.4955092_4955093insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955097dup , CM000679.2:g.4955097dup	GRCh38
NC_000017.10:g.4858392dup , CM000679.1:g.4858392dup	GRCh37
NC_000017.9:g.4799138dup	NCBI36
NG_012063.2:g.14007dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.467dup MANE Select	ENSP00000430055.2:p.Ser157LeufsTer?
ENST00000323997.10:c.467dup	ENSP00000324105.6:p.Ser157LeufsTer?
ENST00000518175.1:c.467dup	ENSP00000431087.1:p.Ser157LeufsTer?
ENST00000519584.5:c.338dup	ENSP00000430636.1:p.Ser114LeufsTer?
ENST00000519602.5:c.467dup	ENSP00000430055.1:p.Ser157LeufsTer?
ENST00000520221.5:c.467dup	ENSP00000467444.1:p.Ser157LeufsTer?
ENST00000521659.5:c.*413dup	ENSP00000430554.1:n.*413dup
ENST00000522301.5:c.467dup	ENSP00000465697.1:p.Ser157LeufsTer?
NM_001193503.1:c.338dup	NP_001180432.1:p.Ser114LeufsTer?
NM_001976.4:c.467dup	NP_001967.3:p.Ser157LeufsTer?
NM_053013.3:c.467dup	NP_443739.3:p.Ser157LeufsTer?
XM_005256521.2:c.494dup	XP_005256578.1:p.Ser166LeufsTer?
XM_011523729.1:c.467dup	XP_011522031.1:p.Ser157LeufsTer?
XM_017024346.2:c.467dup	XP_016879835.1:p.Ser157LeufsTer?
NM_001193503.2:c.338dup	NP_001180432.1:p.Ser114LeufsTer?
NM_001374523.1:c.467dup	NP_001361452.1:p.Ser157LeufsTer?
NM_001374524.1:c.494dup	NP_001361453.1:p.Ser166LeufsTer?
NM_001976.5:c.467dup	NP_001967.3:p.Ser157LeufsTer?
NM_053013.4:c.467dup MANE Select	NP_443739.3:p.Ser157LeufsTer?