Canonical Allele Identifier: CA994092479

Gene: ANKLE1

Linked Data

• dbSNP Id: rs2073993747
• gnomAD v3: 19-17283204-G-A
• gnomAD v4: 19-17283204-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283204G>A , CM000681.2:g.17283204G>A	GRCh38
NC_000019.9:g.17394013G>A , CM000681.1:g.17394013G>A	GRCh37
NC_000019.8:g.17255013G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.461-21G>A MANE Select	ENSP00000384008.3:n.461-21G>A
ENST00000404261.9:c.461-21G>A	ENSP00000384753.6:n.461-21G>A
ENST00000594072.6:c.461-21G>A	ENSP00000468845.4:n.461-21G>A
ENST00000651416.1:n.678-21G>A
ENST00000652132.1:c.428-21G>A	ENSP00000498416.1:n.428-21G>A
ENST00000394458.7:c.623-21G>A	ENSP00000377971.4:n.623-21G>A
ENST00000404085.5:c.*360-21G>A	ENSP00000384008.2:n.*360-21G>A
ENST00000404261.8:c.623-21G>A	ENSP00000384753.5:n.623-21G>A
ENST00000594072.5:c.623-21G>A	ENSP00000468845.3:n.623-21G>A
ENST00000596626.1:n.574-21G>A
ENST00000598347.2:c.463-21G>A
NM_001278443.1:c.590-21G>A	NP_001265372.1:n.590-21G>A
NM_001278444.1:c.623-21G>A	NP_001265373.1:n.623-21G>A
NM_001278445.1:c.527-21G>A	NP_001265374.1:n.527-21G>A
NM_152363.5:c.623-21G>A	NP_689576.5:n.623-21G>A
NR_103530.1:n.737-21G>A
NM_001278443.2:c.428-21G>A	NP_001265372.2:n.428-21G>A
NM_001278444.2:c.461-21G>A	NP_001265373.2:n.461-21G>A
NM_001278445.2:c.419-21G>A	NP_001265374.2:n.419-21G>A
NM_152363.6:c.461-21G>A MANE Select	NP_689576.6:n.461-21G>A
NR_103530.2:n.481-21G>A