Canonical Allele Identifier: CA2697554348
Gene: ENO3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2762913
ClinVar RCV Id: RCV003517628

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4955057dup , CM000679.2:g.4955057dup GRCh38
NC_000017.10:g.4858352dup , CM000679.1:g.4858352dup GRCh37
NC_000017.9:g.4799098dup NCBI36
NG_012063.2:g.13967dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000519602.6:c.445-18dup MANE Select ENSP00000430055.2:n.445-18dup
ENST00000323997.10:c.445-18dup ENSP00000324105.6:n.445-18dup
ENST00000518175.1:c.445-18dup ENSP00000431087.1:n.445-18dup
ENST00000519584.5:c.316-18dup ENSP00000430636.1:n.316-18dup
ENST00000519602.5:c.445-18dup ENSP00000430055.1:n.445-18dup
ENST00000520221.5:c.445-18dup ENSP00000467444.1:n.445-18dup
ENST00000521659.5:c.*391-18dup ENSP00000430554.1:n.*391-18dup
ENST00000522249.5:c.445-18dup ENSP00000428811.1:n.445-18dup
ENST00000522301.5:c.445-18dup ENSP00000465697.1:n.445-18dup
NM_001193503.1:c.316-18dup NP_001180432.1:n.316-18dup
NM_001976.4:c.445-18dup NP_001967.3:n.445-18dup
NM_053013.3:c.445-18dup NP_443739.3:n.445-18dup
XM_005256521.2:c.472-18dup XP_005256578.1:n.472-18dup
XM_011523729.1:c.445-18dup XP_011522031.1:n.445-18dup
XM_017024346.2:c.445-18dup XP_016879835.1:n.445-18dup
NM_001193503.2:c.316-18dup NP_001180432.1:n.316-18dup
NM_001374523.1:c.445-18dup NP_001361452.1:n.445-18dup
NM_001374524.1:c.472-18dup NP_001361453.1:n.472-18dup
NM_001976.5:c.445-18dup NP_001967.3:n.445-18dup
NM_053013.4:c.445-18dup MANE Select NP_443739.3:n.445-18dup