Canonical Allele Identifier: CA2325780495

Gene: ANKLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283360_17283362delinsCTG , CM000681.2:g.17283360_17283362delinsCTG	GRCh38
NC_000019.9:g.17394169_17394171delinsCTG , CM000681.1:g.17394169_17394171delinsCTG	GRCh37
NC_000019.8:g.17255169_17255171delinsCTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.596_598delinsCTG MANE Select	ENSP00000384008.3:p.Thr199=
ENST00000404261.9:c.596_598delinsCTG	ENSP00000384753.6:p.Thr199=
ENST00000594072.6:c.596_598delinsCTG	ENSP00000468845.4:p.Thr199=
ENST00000651416.1:n.813_815delinsCTG
ENST00000652132.1:c.563_565delinsCTG	ENSP00000498416.1:p.Thr188=
ENST00000394458.7:c.758_760delinsCTG	ENSP00000377971.4:p.Thr253=
ENST00000404085.5:c.*495_*497delinsCTG	ENSP00000384008.2:n.*495_*497delinsCTG
ENST00000404261.8:c.758_760delinsCTG	ENSP00000384753.5:p.Thr253=
ENST00000594072.5:c.758_760delinsCTG	ENSP00000468845.3:p.Thr253=
ENST00000596626.1:n.709_711delinsCTG
ENST00000598347.2:c.598_600delinsCTG
NM_001278443.1:c.725_727delinsCTG	NP_001265372.1:p.Thr242=
NM_001278444.1:c.758_760delinsCTG	NP_001265373.1:p.Thr253=
NM_001278445.1:c.662_664delinsCTG	NP_001265374.1:p.Thr221=
NM_152363.5:c.758_760delinsCTG	NP_689576.5:p.Thr253=
NR_103530.1:n.872_874delinsCTG
NM_001278443.2:c.563_565delinsCTG	NP_001265372.2:p.Thr188=
NM_001278444.2:c.596_598delinsCTG	NP_001265373.2:p.Thr199=
NM_001278445.2:c.554_556delinsCTG	NP_001265374.2:p.Thr185=
NM_152363.6:c.596_598delinsCTG MANE Select	NP_689576.6:p.Thr199=
NR_103530.2:n.616_618delinsCTG