Canonical Allele Identifier: CA772695661

Gene: ENO3

Linked Data

• dbSNP Id: rs1186383310
• gnomAD v3: 17-4955408-CCT-C
• gnomAD v4: 17-4955408-CCT-C
• MyVariant Identifiers: chr17:g.4858704_4858705del (hg19) ; chr17:g.4955409_4955410del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4955409_4955410del , CM000679.2:g.4955409_4955410del	GRCh38
NC_000017.10:g.4858704_4858705del , CM000679.1:g.4858704_4858705del	GRCh37
NC_000017.9:g.4799450_4799451del	NCBI36
NG_012063.2:g.14319_14320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519602.6:c.670_671del MANE Select	ENSP00000430055.2:p.Leu224GlyfsTer26
ENST00000323997.10:c.670_671del	ENSP00000324105.6:p.Leu224GlyfsTer26
ENST00000518175.1:c.670_671del	ENSP00000431087.1:p.Leu224GlyfsTer26
ENST00000519584.5:c.541_542del	ENSP00000430636.1:p.Leu181GlyfsTer26
ENST00000519602.5:c.670_671del	ENSP00000430055.1:p.Leu224GlyfsTer26
ENST00000521659.5:c.*616_*617del	ENSP00000430554.1:n.*616_*617del
NM_001193503.1:c.541_542del	NP_001180432.1:p.Leu181GlyfsTer26
NM_001976.4:c.670_671del	NP_001967.3:p.Leu224GlyfsTer26
NM_053013.3:c.670_671del	NP_443739.3:p.Leu224GlyfsTer26
XM_005256521.2:c.697_698del	XP_005256578.1:p.Leu233GlyfsTer26
XM_011523729.1:c.670_671del	XP_011522031.1:p.Leu224GlyfsTer26
XM_017024346.2:c.670_671del	XP_016879835.1:p.Leu224GlyfsTer26
NM_001193503.2:c.541_542del	NP_001180432.1:p.Leu181GlyfsTer26
NM_001374523.1:c.670_671del	NP_001361452.1:p.Leu224GlyfsTer26
NM_001374524.1:c.697_698del	NP_001361453.1:p.Leu233GlyfsTer26
NM_001976.5:c.670_671del	NP_001967.3:p.Leu224GlyfsTer26
NM_053013.4:c.670_671del MANE Select	NP_443739.3:p.Leu224GlyfsTer26