Canonical Allele Identifier: CA2325780466

Gene: ANKLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283316G= , CM000681.2:g.17283316G=	GRCh38
NC_000019.9:g.17394125G= , CM000681.1:g.17394125G=	GRCh37
NC_000019.8:g.17255125G=	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000404085.7:c.552G= MANE Select	ENSP00000384008.3:p.Leu184=
ENST00000404261.9:c.552G=	ENSP00000384753.6:p.Leu184=
ENST00000594072.6:c.552G=	ENSP00000468845.4:p.Leu184=
ENST00000651416.1:n.769G=
ENST00000652132.1:c.519G=	ENSP00000498416.1:p.Leu173=
ENST00000394458.7:c.714G=	ENSP00000377971.4:p.Leu238=
ENST00000404085.5:c.*451G=	ENSP00000384008.2:n.*451G=
ENST00000404261.8:c.714G=	ENSP00000384753.5:p.Leu238=
ENST00000594072.5:c.714G=	ENSP00000468845.3:p.Leu238=
ENST00000596626.1:n.665G=
ENST00000598347.2:c.554G=
NM_001278443.1:c.681G=	NP_001265372.1:p.Leu227=
NM_001278444.1:c.714G=	NP_001265373.1:p.Leu238=
NM_001278445.1:c.618G=	NP_001265374.1:p.Leu206=
NM_152363.5:c.714G=	NP_689576.5:p.Leu238=
NR_103530.1:n.828G=
NM_001278443.2:c.519G=	NP_001265372.2:p.Leu173=
NM_001278444.2:c.552G=	NP_001265373.2:p.Leu184=
NM_001278445.2:c.510G=	NP_001265374.2:p.Leu170=
NM_152363.6:c.552G= MANE Select	NP_689576.6:p.Leu184=
NR_103530.2:n.572G=