Canonical Allele Identifier: CA2583322821

Gene: ANKLE1

Linked Data

• gnomAD v4: 19-17283030-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283030G>A , CM000681.2:g.17283030G>A	GRCh38
NC_000019.9:g.17393839G>A , CM000681.1:g.17393839G>A	GRCh37
NC_000019.8:g.17254839G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.460+28G>A MANE Select	ENSP00000384008.3:n.460+28G>A
ENST00000404261.9:c.460+28G>A	ENSP00000384753.6:n.460+28G>A
ENST00000594072.6:c.460+28G>A	ENSP00000468845.4:n.460+28G>A
ENST00000651416.1:n.677+28G>A
ENST00000652132.1:c.427+28G>A	ENSP00000498416.1:n.427+28G>A
ENST00000394458.7:c.622+28G>A	ENSP00000377971.4:n.622+28G>A
ENST00000404085.5:c.*359+28G>A	ENSP00000384008.2:n.*359+28G>A
ENST00000404261.8:c.622+28G>A	ENSP00000384753.5:n.622+28G>A
ENST00000594072.5:c.622+28G>A	ENSP00000468845.3:n.622+28G>A
ENST00000596099.1:n.389G>A
ENST00000596626.1:n.573+28G>A
ENST00000596834.1:n.536G>A
ENST00000598347.2:c.462+28G>A
NM_001278443.1:c.589+28G>A	NP_001265372.1:n.589+28G>A
NM_001278444.1:c.622+28G>A	NP_001265373.1:n.622+28G>A
NM_001278445.1:c.526+28G>A	NP_001265374.1:n.526+28G>A
NM_152363.5:c.622+28G>A	NP_689576.5:n.622+28G>A
NR_103530.1:n.736+28G>A
NM_001278443.2:c.427+28G>A	NP_001265372.2:n.427+28G>A
NM_001278444.2:c.460+28G>A	NP_001265373.2:n.460+28G>A
NM_001278445.2:c.418+28G>A	NP_001265374.2:n.418+28G>A
NM_152363.6:c.460+28G>A MANE Select	NP_689576.6:n.460+28G>A
NR_103530.2:n.480+28G>A