Canonical Allele Identifier: CA624856683

Gene: ENO3

Linked Data

• dbSNP Id: rs1478159635
• gnomAD v2: 17-4858450-C-CCCG
• MyVariant Identifiers: chr17:g.4858450_4858451insCCG (hg19) ; chr17:g.4955155_4955156insCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955155_4955156insCCG , CM000679.2:g.4955155_4955156insCCG	GRCh38
NC_000017.10:g.4858450_4858451insCCG , CM000679.1:g.4858450_4858451insCCG	GRCh37
NC_000017.9:g.4799196_4799197insCCG	NCBI36
NG_012063.2:g.14065_14066insCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.525_526insCCG MANE Select	ENSP00000430055.2:p.Ala175_Ser176insPro
ENST00000323997.10:c.525_526insCCG	ENSP00000324105.6:p.Ala175_Ser176insPro
ENST00000518175.1:c.525_526insCCG	ENSP00000431087.1:p.Ala175_Ser176insPro
ENST00000519584.5:c.396_397insCCG	ENSP00000430636.1:p.Ala132_Ser133insPro
ENST00000519602.5:c.525_526insCCG	ENSP00000430055.1:p.Ala175_Ser176insPro
ENST00000520221.5:c.525_526insCCG	ENSP00000467444.1:p.Ala175_Ser176insPro
ENST00000521659.5:c.*471_*472insCCG	ENSP00000430554.1:n.*471_*472insCCG
ENST00000522301.5:c.525_526insCCG	ENSP00000465697.1:p.Ala175_Ser176insPro
NM_001193503.1:c.396_397insCCG	NP_001180432.1:p.Ala132_Ser133insPro
NM_001976.4:c.525_526insCCG	NP_001967.3:p.Ala175_Ser176insPro
NM_053013.3:c.525_526insCCG	NP_443739.3:p.Ala175_Ser176insPro
XM_005256521.2:c.552_553insCCG	XP_005256578.1:p.Ala184_Ser185insPro
XM_011523729.1:c.525_526insCCG	XP_011522031.1:p.Ala175_Ser176insPro
XM_017024346.2:c.525_526insCCG	XP_016879835.1:p.Ala175_Ser176insPro
NM_001193503.2:c.396_397insCCG	NP_001180432.1:p.Ala132_Ser133insPro
NM_001374523.1:c.525_526insCCG	NP_001361452.1:p.Ala175_Ser176insPro
NM_001374524.1:c.552_553insCCG	NP_001361453.1:p.Ala184_Ser185insPro
NM_001976.5:c.525_526insCCG	NP_001967.3:p.Ala175_Ser176insPro
NM_053013.4:c.525_526insCCG MANE Select	NP_443739.3:p.Ala175_Ser176insPro