Canonical Allele Identifier: CA8316357

Gene: ENO3

Linked Data

• dbSNP Id: rs768174180
• ExAC: 17:4858508 GTCA / G
• gnomAD v2: 17-4858508-GTCA-G
• gnomAD v3: 17-4955213-GTCA-G
• gnomAD v4: 17-4955213-GTCA-G
• MyVariant Identifiers: chr17:g.4858509_4858511del (hg19) ; chr17:g.4955214_4955216del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955217_4955219del , CM000679.2:g.4955217_4955219del	GRCh38
NC_000017.10:g.4858512_4858514del , CM000679.1:g.4858512_4858514del	GRCh37
NC_000017.9:g.4799258_4799260del	NCBI36
NG_012063.2:g.14127_14129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.587_589del MANE Select	ENSP00000430055.2:p.Ile196del
ENST00000323997.10:c.587_589del	ENSP00000324105.6:p.Ile196del
ENST00000518175.1:c.587_589del	ENSP00000431087.1:p.Ile196del
ENST00000519584.5:c.458_460del	ENSP00000430636.1:p.Ile153del
ENST00000519602.5:c.587_589del	ENSP00000430055.1:p.Ile196del
ENST00000520221.5:c.587_589del	ENSP00000467444.1:p.Ile196del
ENST00000521659.5:c.*533_*535del	ENSP00000430554.1:n.*533_*535del
ENST00000522301.5:c.587_589del	ENSP00000465697.1:p.Ile196del
NM_001193503.1:c.458_460del	NP_001180432.1:p.Ile153del
NM_001976.4:c.587_589del	NP_001967.3:p.Ile196del
NM_053013.3:c.587_589del	NP_443739.3:p.Ile196del
XM_005256521.2:c.614_616del	XP_005256578.1:p.Ile205del
XM_011523729.1:c.587_589del	XP_011522031.1:p.Ile196del
XM_017024346.2:c.587_589del	XP_016879835.1:p.Ile196del
NM_001193503.2:c.458_460del	NP_001180432.1:p.Ile153del
NM_001374523.1:c.587_589del	NP_001361452.1:p.Ile196del
NM_001374524.1:c.614_616del	NP_001361453.1:p.Ile205del
NM_001976.5:c.587_589del	NP_001967.3:p.Ile196del
NM_053013.4:c.587_589del MANE Select	NP_443739.3:p.Ile196del