Canonical Allele Identifier: CA2515547041

Gene: ANKLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283004_17283005del , CM000681.2:g.17283004_17283005del	GRCh38
NC_000019.9:g.17393813_17393814del , CM000681.1:g.17393813_17393814del	GRCh37
NC_000019.8:g.17254813_17254814del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.460+2_460+3del MANE Select	ENSP00000384008.3:n.460+2_460+3del
ENST00000404261.9:c.460+2_460+3del	ENSP00000384753.6:n.460+2_460+3del
ENST00000594072.6:c.460+2_460+3del	ENSP00000468845.4:n.460+2_460+3del
ENST00000651416.1:n.677+2_677+3del
ENST00000652132.1:c.427+2_427+3del	ENSP00000498416.1:n.427+2_427+3del
ENST00000394458.7:c.622+2_622+3del	ENSP00000377971.4:n.622+2_622+3del
ENST00000404085.5:c.*359+2_*359+3del	ENSP00000384008.2:n.*359+2_*359+3del
ENST00000404261.8:c.622+2_622+3del	ENSP00000384753.5:n.622+2_622+3del
ENST00000594072.5:c.622+2_622+3del	ENSP00000468845.3:n.622+2_622+3del
ENST00000596099.1:n.363_364del
ENST00000596626.1:n.573+2_573+3del
ENST00000596834.1:n.510_511del
ENST00000598347.2:c.462+2_462+3del
NM_001278443.1:c.589+2_589+3del	NP_001265372.1:n.589+2_589+3del
NM_001278444.1:c.622+2_622+3del	NP_001265373.1:n.622+2_622+3del
NM_001278445.1:c.526+2_526+3del	NP_001265374.1:n.526+2_526+3del
NM_152363.5:c.622+2_622+3del	NP_689576.5:n.622+2_622+3del
NR_103530.1:n.736+2_736+3del
NM_001278443.2:c.427+2_427+3del	NP_001265372.2:n.427+2_427+3del
NM_001278444.2:c.460+2_460+3del	NP_001265373.2:n.460+2_460+3del
NM_001278445.2:c.418+2_418+3del	NP_001265374.2:n.418+2_418+3del
NM_152363.6:c.460+2_460+3del MANE Select	NP_689576.6:n.460+2_460+3del
NR_103530.2:n.480+2_480+3del