Canonical Allele Identifier: CA2325780343
Gene: ANKLE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.17283067T= , CM000681.2:g.17283067T= GRCh38
NC_000019.9:g.17393876T= , CM000681.1:g.17393876T= GRCh37
NC_000019.8:g.17254876T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000404085.7:c.460+65T= MANE Select ENSP00000384008.3:n.460+65T=
ENST00000404261.9:c.460+65T= ENSP00000384753.6:n.460+65T=
ENST00000594072.6:c.460+65T= ENSP00000468845.4:n.460+65T=
ENST00000651416.1:n.677+65T=
ENST00000652132.1:c.427+65T= ENSP00000498416.1:n.427+65T=
ENST00000394458.7:c.622+65T= ENSP00000377971.4:n.622+65T=
ENST00000404085.5:c.*359+65T= ENSP00000384008.2:n.*359+65T=
ENST00000404261.8:c.622+65T= ENSP00000384753.5:n.622+65T=
ENST00000594072.5:c.622+65T= ENSP00000468845.3:n.622+65T=
ENST00000596099.1:n.426T=
ENST00000596626.1:n.573+65T=
ENST00000598347.2:c.462+65T=
NM_001278443.1:c.589+65T= NP_001265372.1:n.589+65T=
NM_001278444.1:c.622+65T= NP_001265373.1:n.622+65T=
NM_001278445.1:c.526+65T= NP_001265374.1:n.526+65T=
NM_152363.5:c.622+65T= NP_689576.5:n.622+65T=
NR_103530.1:n.736+65T=
NM_001278443.2:c.427+65T= NP_001265372.2:n.427+65T=
NM_001278444.2:c.460+65T= NP_001265373.2:n.460+65T=
NM_001278445.2:c.418+65T= NP_001265374.2:n.418+65T=
NM_152363.6:c.460+65T= MANE Select NP_689576.6:n.460+65T=
NR_103530.2:n.480+65T=