Canonical Allele Identifier: CA2583322962

Gene: ANKLE1

Linked Data

• gnomAD v4: 19-17283184-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283184T>C , CM000681.2:g.17283184T>C	GRCh38
NC_000019.9:g.17393993T>C , CM000681.1:g.17393993T>C	GRCh37
NC_000019.8:g.17254993T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.461-41T>C MANE Select	ENSP00000384008.3:n.461-41T>C
ENST00000404261.9:c.461-41T>C	ENSP00000384753.6:n.461-41T>C
ENST00000594072.6:c.461-41T>C	ENSP00000468845.4:n.461-41T>C
ENST00000651416.1:n.678-41T>C
ENST00000652132.1:c.428-41T>C	ENSP00000498416.1:n.428-41T>C
ENST00000394458.7:c.623-41T>C	ENSP00000377971.4:n.623-41T>C
ENST00000404085.5:c.*360-41T>C	ENSP00000384008.2:n.*360-41T>C
ENST00000404261.8:c.623-41T>C	ENSP00000384753.5:n.623-41T>C
ENST00000594072.5:c.623-41T>C	ENSP00000468845.3:n.623-41T>C
ENST00000596626.1:n.574-41T>C
ENST00000598347.2:c.463-41T>C
NM_001278443.1:c.590-41T>C	NP_001265372.1:n.590-41T>C
NM_001278444.1:c.623-41T>C	NP_001265373.1:n.623-41T>C
NM_001278445.1:c.527-41T>C	NP_001265374.1:n.527-41T>C
NM_152363.5:c.623-41T>C	NP_689576.5:n.623-41T>C
NR_103530.1:n.737-41T>C
NM_001278443.2:c.428-41T>C	NP_001265372.2:n.428-41T>C
NM_001278444.2:c.461-41T>C	NP_001265373.2:n.461-41T>C
NM_001278445.2:c.419-41T>C	NP_001265374.2:n.419-41T>C
NM_152363.6:c.461-41T>C MANE Select	NP_689576.6:n.461-41T>C
NR_103530.2:n.481-41T>C