Canonical Allele Identifier: CA624856678

Gene: ENO3

Linked Data

• dbSNP Id: rs1210068941
• gnomAD v2: 17-4858437-TG-T
• MyVariant Identifiers: chr17:g.4858438del (hg19) ; chr17:g.4955143del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955143del , CM000679.2:g.4955143del	GRCh38
NC_000017.10:g.4858438del , CM000679.1:g.4858438del	GRCh37
NC_000017.9:g.4799184del	NCBI36
NG_012063.2:g.14053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.513del MANE Select	ENSP00000430055.2:p.Pro172LeufsTer?
ENST00000323997.10:c.513del	ENSP00000324105.6:p.Pro172LeufsTer?
ENST00000518175.1:c.513del	ENSP00000431087.1:p.Pro172LeufsTer?
ENST00000519584.5:c.384del	ENSP00000430636.1:p.Pro129LeufsTer?
ENST00000519602.5:c.513del	ENSP00000430055.1:p.Pro172LeufsTer?
ENST00000520221.5:c.513del	ENSP00000467444.1:p.Pro172LeufsTer?
ENST00000521659.5:c.*459del	ENSP00000430554.1:n.*459del
ENST00000522301.5:c.513del	ENSP00000465697.1:p.Pro172LeufsTer?
NM_001193503.1:c.384del	NP_001180432.1:p.Pro129LeufsTer?
NM_001976.4:c.513del	NP_001967.3:p.Pro172LeufsTer?
NM_053013.3:c.513del	NP_443739.3:p.Pro172LeufsTer?
XM_005256521.2:c.540del	XP_005256578.1:p.Pro181LeufsTer?
XM_011523729.1:c.513del	XP_011522031.1:p.Pro172LeufsTer?
XM_017024346.2:c.513del	XP_016879835.1:p.Pro172LeufsTer?
NM_001193503.2:c.384del	NP_001180432.1:p.Pro129LeufsTer?
NM_001374523.1:c.513del	NP_001361452.1:p.Pro172LeufsTer?
NM_001374524.1:c.540del	NP_001361453.1:p.Pro181LeufsTer?
NM_001976.5:c.513del	NP_001967.3:p.Pro172LeufsTer?
NM_053013.4:c.513del MANE Select	NP_443739.3:p.Pro172LeufsTer?