Canonical Allele Identifier: CA2583322963

Gene: ANKLE1

Linked Data

• gnomAD v4: 19-17283185-CCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283193_17283195del , CM000681.2:g.17283193_17283195del	GRCh38
NC_000019.9:g.17394002_17394004del , CM000681.1:g.17394002_17394004del	GRCh37
NC_000019.8:g.17255002_17255004del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.461-32_461-30del MANE Select	ENSP00000384008.3:n.461-32_461-30del
ENST00000404261.9:c.461-32_461-30del	ENSP00000384753.6:n.461-32_461-30del
ENST00000594072.6:c.461-32_461-30del	ENSP00000468845.4:n.461-32_461-30del
ENST00000651416.1:n.678-32_678-30del
ENST00000652132.1:c.428-32_428-30del	ENSP00000498416.1:n.428-32_428-30del
ENST00000394458.7:c.623-32_623-30del	ENSP00000377971.4:n.623-32_623-30del
ENST00000404085.5:c.*360-32_*360-30del	ENSP00000384008.2:n.*360-32_*360-30del
ENST00000404261.8:c.623-32_623-30del	ENSP00000384753.5:n.623-32_623-30del
ENST00000594072.5:c.623-32_623-30del	ENSP00000468845.3:n.623-32_623-30del
ENST00000596626.1:n.574-32_574-30del
ENST00000598347.2:c.463-32_463-30del
NM_001278443.1:c.590-32_590-30del	NP_001265372.1:n.590-32_590-30del
NM_001278444.1:c.623-32_623-30del	NP_001265373.1:n.623-32_623-30del
NM_001278445.1:c.527-32_527-30del	NP_001265374.1:n.527-32_527-30del
NM_152363.5:c.623-32_623-30del	NP_689576.5:n.623-32_623-30del
NR_103530.1:n.737-32_737-30del
NM_001278443.2:c.428-32_428-30del	NP_001265372.2:n.428-32_428-30del
NM_001278444.2:c.461-32_461-30del	NP_001265373.2:n.461-32_461-30del
NM_001278445.2:c.419-32_419-30del	NP_001265374.2:n.419-32_419-30del
NM_152363.6:c.461-32_461-30del MANE Select	NP_689576.6:n.461-32_461-30del
NR_103530.2:n.481-32_481-30del