Canonical Allele Identifier: CA783824416

Gene: ANKLE1

Linked Data

• dbSNP Id: rs1295993342
• gnomAD v3: 19-17283144-TCTC-T
• gnomAD v4: 19-17283144-TCTC-T
• MyVariant Identifiers: chr19:g.17393954_17393956del (hg19) ; chr19:g.17283145_17283147del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283147_17283149del , CM000681.2:g.17283147_17283149del	GRCh38
NC_000019.9:g.17393956_17393958del , CM000681.1:g.17393956_17393958del	GRCh37
NC_000019.8:g.17254956_17254958del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.461-78_461-76del MANE Select	ENSP00000384008.3:n.461-78_461-76del
ENST00000404261.9:c.461-78_461-76del	ENSP00000384753.6:n.461-78_461-76del
ENST00000594072.6:c.461-78_461-76del	ENSP00000468845.4:n.461-78_461-76del
ENST00000651416.1:n.678-78_678-76del
ENST00000652132.1:c.428-78_428-76del	ENSP00000498416.1:n.428-78_428-76del
ENST00000394458.7:c.623-78_623-76del	ENSP00000377971.4:n.623-78_623-76del
ENST00000404085.5:c.*360-78_*360-76del	ENSP00000384008.2:n.*360-78_*360-76del
ENST00000404261.8:c.623-78_623-76del	ENSP00000384753.5:n.623-78_623-76del
ENST00000594072.5:c.623-78_623-76del	ENSP00000468845.3:n.623-78_623-76del
ENST00000596099.1:n.506_508del
ENST00000596626.1:n.574-78_574-76del
ENST00000598347.2:c.463-78_463-76del
NM_001278443.1:c.590-78_590-76del	NP_001265372.1:n.590-78_590-76del
NM_001278444.1:c.623-78_623-76del	NP_001265373.1:n.623-78_623-76del
NM_001278445.1:c.527-78_527-76del	NP_001265374.1:n.527-78_527-76del
NM_152363.5:c.623-78_623-76del	NP_689576.5:n.623-78_623-76del
NR_103530.1:n.737-78_737-76del
NM_001278443.2:c.428-78_428-76del	NP_001265372.2:n.428-78_428-76del
NM_001278444.2:c.461-78_461-76del	NP_001265373.2:n.461-78_461-76del
NM_001278445.2:c.419-78_419-76del	NP_001265374.2:n.419-78_419-76del
NM_152363.6:c.461-78_461-76del MANE Select	NP_689576.6:n.461-78_461-76del
NR_103530.2:n.481-78_481-76del