Canonical Allele Identifier: CA2325780438

Gene: ANKLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283258T= , CM000681.2:g.17283258T=	GRCh38
NC_000019.9:g.17394067T= , CM000681.1:g.17394067T=	GRCh37
NC_000019.8:g.17255067T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.494T= MANE Select	ENSP00000384008.3:p.Leu165=
ENST00000404261.9:c.494T=	ENSP00000384753.6:p.Leu165=
ENST00000594072.6:c.494T=	ENSP00000468845.4:p.Leu165=
ENST00000651416.1:n.711T=
ENST00000652132.1:c.461T=	ENSP00000498416.1:p.Leu154=
ENST00000394458.7:c.656T=	ENSP00000377971.4:p.Leu219=
ENST00000404085.5:c.*393T=	ENSP00000384008.2:n.*393T=
ENST00000404261.8:c.656T=	ENSP00000384753.5:p.Leu219=
ENST00000594072.5:c.656T=	ENSP00000468845.3:p.Leu219=
ENST00000596626.1:n.607T=
ENST00000598347.2:c.496T=
NM_001278443.1:c.623T=	NP_001265372.1:p.Leu208=
NM_001278444.1:c.656T=	NP_001265373.1:p.Leu219=
NM_001278445.1:c.560T=	NP_001265374.1:p.Leu187=
NM_152363.5:c.656T=	NP_689576.5:p.Leu219=
NR_103530.1:n.770T=
NM_001278443.2:c.461T=	NP_001265372.2:p.Leu154=
NM_001278444.2:c.494T=	NP_001265373.2:p.Leu165=
NM_001278445.2:c.452T=	NP_001265374.2:p.Leu151=
NM_152363.6:c.494T= MANE Select	NP_689576.6:p.Leu165=
NR_103530.2:n.514T=