Canonical Allele Identifier: CA2842410909

Gene: ANKLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283376del , CM000681.2:g.17283376del	GRCh38
NC_000019.9:g.17394185del , CM000681.1:g.17394185del	GRCh37
NC_000019.8:g.17255185del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.612del MANE Select	ENSP00000384008.3:p.Ser205AlafsTer?
ENST00000404261.9:c.612del	ENSP00000384753.6:p.Ser205AlafsTer?
ENST00000594072.6:c.612del	ENSP00000468845.4:p.Ser205AlafsTer?
ENST00000651416.1:n.829del
ENST00000652132.1:c.579del	ENSP00000498416.1:p.Ser194AlafsTer?
ENST00000394458.7:c.774del	ENSP00000377971.4:p.Ser259AlafsTer?
ENST00000404085.5:c.*511del	ENSP00000384008.2:n.*511del
ENST00000404261.8:c.774del	ENSP00000384753.5:p.Ser259AlafsTer?
ENST00000594072.5:c.774del	ENSP00000468845.3:p.Ser259AlafsTer?
ENST00000596626.1:n.725del
ENST00000598347.2:c.614del
NM_001278443.1:c.741del	NP_001265372.1:p.Ser248AlafsTer?
NM_001278444.1:c.774del	NP_001265373.1:p.Ser259AlafsTer?
NM_001278445.1:c.678del	NP_001265374.1:p.Ser227AlafsTer?
NM_152363.5:c.774del	NP_689576.5:p.Ser259AlafsTer?
NR_103530.1:n.888del
NM_001278443.2:c.579del	NP_001265372.2:p.Ser194AlafsTer?
NM_001278444.2:c.612del	NP_001265373.2:p.Ser205AlafsTer?
NM_001278445.2:c.570del	NP_001265374.2:p.Ser191AlafsTer?
NM_152363.6:c.612del MANE Select	NP_689576.6:p.Ser205AlafsTer?
NR_103530.2:n.632del