Canonical Allele Identifier: CA645613363

Gene: ANKLE1

Linked Data

• COSMIC: COSM2157724 ; COSM2157725

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283315dup , CM000681.2:g.17283315dup	GRCh38
NC_000019.9:g.17394124dup , CM000681.1:g.17394124dup	GRCh37
NC_000019.8:g.17255124dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000404085.7:c.551dup MANE Select	ENSP00000384008.3:p.Leu184PhefsTer4
ENST00000404261.9:c.551dup	ENSP00000384753.6:p.Leu184PhefsTer4
ENST00000594072.6:c.551dup	ENSP00000468845.4:p.Leu184PhefsTer4
ENST00000651416.1:n.768dup
ENST00000652132.1:c.518dup	ENSP00000498416.1:p.Leu173PhefsTer4
ENST00000394458.7:c.713dup	ENSP00000377971.4:p.Leu238PhefsTer4
ENST00000404085.5:c.*450dup	ENSP00000384008.2:n.*450dup
ENST00000404261.8:c.713dup	ENSP00000384753.5:p.Leu238PhefsTer4
ENST00000594072.5:c.713dup	ENSP00000468845.3:p.Leu238PhefsTer4
ENST00000596626.1:n.664dup
ENST00000598347.2:c.553dup
NM_001278443.1:c.680dup	NP_001265372.1:p.Leu227PhefsTer4
NM_001278444.1:c.713dup	NP_001265373.1:p.Leu238PhefsTer4
NM_001278445.1:c.617dup	NP_001265374.1:p.Leu206PhefsTer4
NM_152363.5:c.713dup	NP_689576.5:p.Leu238PhefsTer4
NR_103530.1:n.827dup
NM_001278443.2:c.518dup	NP_001265372.2:p.Leu173PhefsTer4
NM_001278444.2:c.551dup	NP_001265373.2:p.Leu184PhefsTer4
NM_001278445.2:c.509dup	NP_001265374.2:p.Leu170PhefsTer4
NM_152363.6:c.551dup MANE Select	NP_689576.6:p.Leu184PhefsTer4
NR_103530.2:n.571dup