Canonical Allele Identifier: CA2583322889

Gene: ANKLE1

Linked Data

• gnomAD v4: 19-17283106-C-CAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17283106_17283107insAAA , CM000681.2:g.17283106_17283107insAAA	GRCh38
NC_000019.9:g.17393915_17393916insAAA , CM000681.1:g.17393915_17393916insAAA	GRCh37
NC_000019.8:g.17254915_17254916insAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404085.7:c.460+104_460+105insAAA MANE Select	ENSP00000384008.3:n.460+104_460+105insAAA
ENST00000404261.9:c.460+104_460+105insAAA	ENSP00000384753.6:n.460+104_460+105insAAA
ENST00000594072.6:c.460+104_460+105insAAA	ENSP00000468845.4:n.460+104_460+105insAAA
ENST00000651416.1:n.677+104_677+105insAAA
ENST00000652132.1:c.427+104_427+105insAAA	ENSP00000498416.1:n.427+104_427+105insAAA
ENST00000394458.7:c.622+104_622+105insAAA	ENSP00000377971.4:n.622+104_622+105insAAA
ENST00000404085.5:c.*359+104_*359+105insAAA	ENSP00000384008.2:n.*359+104_*359+105insAAA
ENST00000404261.8:c.622+104_622+105insAAA	ENSP00000384753.5:n.622+104_622+105insAAA
ENST00000594072.5:c.622+104_622+105insAAA	ENSP00000468845.3:n.622+104_622+105insAAA
ENST00000596099.1:n.465_466insAAA
ENST00000596626.1:n.573+104_573+105insAAA
ENST00000598347.2:c.462+104_462+105insAAA
NM_001278443.1:c.589+104_589+105insAAA	NP_001265372.1:n.589+104_589+105insAAA
NM_001278444.1:c.622+104_622+105insAAA	NP_001265373.1:n.622+104_622+105insAAA
NM_001278445.1:c.526+104_526+105insAAA	NP_001265374.1:n.526+104_526+105insAAA
NM_152363.5:c.622+104_622+105insAAA	NP_689576.5:n.622+104_622+105insAAA
NR_103530.1:n.736+104_736+105insAAA
NM_001278443.2:c.427+104_427+105insAAA	NP_001265372.2:n.427+104_427+105insAAA
NM_001278444.2:c.460+104_460+105insAAA	NP_001265373.2:n.460+104_460+105insAAA
NM_001278445.2:c.418+104_418+105insAAA	NP_001265374.2:n.418+104_418+105insAAA
NM_152363.6:c.460+104_460+105insAAA MANE Select	NP_689576.6:n.460+104_460+105insAAA
NR_103530.2:n.480+104_480+105insAAA