Canonical Allele Identifier: CA2583322864

Gene: ANKLE1

Linked Data

• gnomAD v4: 19-17283074-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283074C>A , CM000681.2:g.17283074C>A	GRCh38
NC_000019.9:g.17393883C>A , CM000681.1:g.17393883C>A	GRCh37
NC_000019.8:g.17254883C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.460+72C>A MANE Select	ENSP00000384008.3:n.460+72C>A
ENST00000404261.9:c.460+72C>A	ENSP00000384753.6:n.460+72C>A
ENST00000594072.6:c.460+72C>A	ENSP00000468845.4:n.460+72C>A
ENST00000651416.1:n.677+72C>A
ENST00000652132.1:c.427+72C>A	ENSP00000498416.1:n.427+72C>A
ENST00000394458.7:c.622+72C>A	ENSP00000377971.4:n.622+72C>A
ENST00000404085.5:c.*359+72C>A	ENSP00000384008.2:n.*359+72C>A
ENST00000404261.8:c.622+72C>A	ENSP00000384753.5:n.622+72C>A
ENST00000594072.5:c.622+72C>A	ENSP00000468845.3:n.622+72C>A
ENST00000596099.1:n.433C>A
ENST00000596626.1:n.573+72C>A
ENST00000598347.2:c.462+72C>A
NM_001278443.1:c.589+72C>A	NP_001265372.1:n.589+72C>A
NM_001278444.1:c.622+72C>A	NP_001265373.1:n.622+72C>A
NM_001278445.1:c.526+72C>A	NP_001265374.1:n.526+72C>A
NM_152363.5:c.622+72C>A	NP_689576.5:n.622+72C>A
NR_103530.1:n.736+72C>A
NM_001278443.2:c.427+72C>A	NP_001265372.2:n.427+72C>A
NM_001278444.2:c.460+72C>A	NP_001265373.2:n.460+72C>A
NM_001278445.2:c.418+72C>A	NP_001265374.2:n.418+72C>A
NM_152363.6:c.460+72C>A MANE Select	NP_689576.6:n.460+72C>A
NR_103530.2:n.480+72C>A