Canonical Allele Identifier: CA2583322995

Gene: ANKLE1

Linked Data

• gnomAD v4: 19-17283393-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283394dup , CM000681.2:g.17283394dup	GRCh38
NC_000019.9:g.17394203dup , CM000681.1:g.17394203dup	GRCh37
NC_000019.8:g.17255203dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.630dup MANE Select	ENSP00000384008.3:p.Gly211ArgfsTer16
ENST00000404261.9:c.630dup	ENSP00000384753.6:p.Gly211ArgfsTer16
ENST00000594072.6:c.630dup	ENSP00000468845.4:p.Gly211ArgfsTer16
ENST00000651416.1:n.847dup
ENST00000652132.1:c.597dup	ENSP00000498416.1:p.Gly200ArgfsTer16
ENST00000394458.7:c.792dup	ENSP00000377971.4:p.Gly265ArgfsTer16
ENST00000404085.5:c.*529dup	ENSP00000384008.2:n.*529dup
ENST00000404261.8:c.792dup	ENSP00000384753.5:p.Gly265ArgfsTer16
ENST00000594072.5:c.792dup	ENSP00000468845.3:p.Gly265ArgfsTer16
ENST00000596626.1:n.743dup
ENST00000598347.2:c.632dup
NM_001278443.1:c.759dup	NP_001265372.1:p.Gly254ArgfsTer16
NM_001278444.1:c.792dup	NP_001265373.1:p.Gly265ArgfsTer16
NM_001278445.1:c.696dup	NP_001265374.1:p.Gly233ArgfsTer16
NM_152363.5:c.792dup	NP_689576.5:p.Gly265ArgfsTer16
NR_103530.1:n.906dup
NM_001278443.2:c.597dup	NP_001265372.2:p.Gly200ArgfsTer16
NM_001278444.2:c.630dup	NP_001265373.2:p.Gly211ArgfsTer16
NM_001278445.2:c.588dup	NP_001265374.2:p.Gly197ArgfsTer16
NM_152363.6:c.630dup MANE Select	NP_689576.6:p.Gly211ArgfsTer16
NR_103530.2:n.650dup