Canonical Allele Identifier: CA2842410906

Gene: ANKLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283243dup , CM000681.2:g.17283243dup	GRCh38
NC_000019.9:g.17394052dup , CM000681.1:g.17394052dup	GRCh37
NC_000019.8:g.17255052dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.479dup MANE Select	ENSP00000384008.3:p.Thr161TyrfsTer3
ENST00000404261.9:c.479dup	ENSP00000384753.6:p.Thr161TyrfsTer3
ENST00000594072.6:c.479dup	ENSP00000468845.4:p.Thr161TyrfsTer3
ENST00000651416.1:n.696dup
ENST00000652132.1:c.446dup	ENSP00000498416.1:p.Thr150TyrfsTer3
ENST00000394458.7:c.641dup	ENSP00000377971.4:p.Thr215TyrfsTer3
ENST00000404085.5:c.*378dup	ENSP00000384008.2:n.*378dup
ENST00000404261.8:c.641dup	ENSP00000384753.5:p.Thr215TyrfsTer3
ENST00000594072.5:c.641dup	ENSP00000468845.3:p.Thr215TyrfsTer3
ENST00000596626.1:n.592dup
ENST00000598347.2:c.481dup
NM_001278443.1:c.608dup	NP_001265372.1:p.Thr204TyrfsTer3
NM_001278444.1:c.641dup	NP_001265373.1:p.Thr215TyrfsTer3
NM_001278445.1:c.545dup	NP_001265374.1:p.Thr183TyrfsTer3
NM_152363.5:c.641dup	NP_689576.5:p.Thr215TyrfsTer3
NR_103530.1:n.755dup
NM_001278443.2:c.446dup	NP_001265372.2:p.Thr150TyrfsTer3
NM_001278444.2:c.479dup	NP_001265373.2:p.Thr161TyrfsTer3
NM_001278445.2:c.437dup	NP_001265374.2:p.Thr147TyrfsTer3
NM_152363.6:c.479dup MANE Select	NP_689576.6:p.Thr161TyrfsTer3
NR_103530.2:n.499dup