Canonical Allele Identifier: CA2325780475
Gene: ANKLE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17283327C= , CM000681.2:g.17283327C= GRCh38
NC_000019.9:g.17394136C= , CM000681.1:g.17394136C= GRCh37
NC_000019.8:g.17255136C= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000404085.7:c.563C= MANE Select ENSP00000384008.3:p.Pro188=
ENST00000404261.9:c.563C= ENSP00000384753.6:p.Pro188=
ENST00000594072.6:c.563C= ENSP00000468845.4:p.Pro188=
ENST00000651416.1:n.780C=
ENST00000652132.1:c.530C= ENSP00000498416.1:p.Pro177=
ENST00000394458.7:c.725C= ENSP00000377971.4:p.Pro242=
ENST00000404085.5:c.*462C= ENSP00000384008.2:n.*462C=
ENST00000404261.8:c.725C= ENSP00000384753.5:p.Pro242=
ENST00000594072.5:c.725C= ENSP00000468845.3:p.Pro242=
ENST00000596626.1:n.676C=
ENST00000598347.2:c.565C=
NM_001278443.1:c.692C= NP_001265372.1:p.Pro231=
NM_001278444.1:c.725C= NP_001265373.1:p.Pro242=
NM_001278445.1:c.629C= NP_001265374.1:p.Pro210=
NM_152363.5:c.725C= NP_689576.5:p.Pro242=
NR_103530.1:n.839C=
NM_001278443.2:c.530C= NP_001265372.2:p.Pro177=
NM_001278444.2:c.563C= NP_001265373.2:p.Pro188=
NM_001278445.2:c.521C= NP_001265374.2:p.Pro174=
NM_152363.6:c.563C= MANE Select NP_689576.6:p.Pro188=
NR_103530.2:n.583C=