Canonical Allele Identifier: CA2060497457
Gene: APPL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105189648_105189651delinsGAAC , CM000674.2:g.105189648_105189651delinsGAAC GRCh38
NC_000012.11:g.105583426_105583429delinsGAAC , CM000674.1:g.105583426_105583429delinsGAAC GRCh37
NC_000012.10:g.104107556_104107559delinsGAAC NCBI36
NG_030419.1:g.51580_51583delinsGTTC

Transcript Alleles

HGVS Amino-acid change
ENST00000258530.8:c.1459+121_1459+124delinsGTTC MANE Select ENSP00000258530.3:n.1459+121_1459+124deli...
ENST00000258530.7:c.1459+121_1459+124delinsGTTC ENSP00000258530.3:n.1459+121_1459+124deli...
ENST00000539978.6:c.1330+121_1330+124delinsGTTC ENSP00000444472.2:n.1330+121_1330+124deli...
ENST00000547439.5:c.*744+121_*744+124delinsGTTC ENSP00000449410.1:n.*744+121_*744+124deli...
ENST00000547809.5:n.1469+121_1469+124delinsGTTC
ENST00000551662.5:c.1477+121_1477+124delinsGTTC ENSP00000446917.1:n.1477+121_1477+124deli...
ENST00000552945.1:n.299+121_299+124delinsGTTC
ENST00000553109.1:c.103+121_103+124delinsGTTC ENSP00000446510.1:n.103+121_103+124delins...
NM_001251904.1:c.1477+121_1477+124delinsGTTC NP_001238833.1:n.1477+121_1477+124delinsG...
NM_001251905.1:c.1330+121_1330+124delinsGTTC NP_001238834.1:n.1330+121_1330+124delinsG...
NM_018171.3:c.1459+121_1459+124delinsGTTC NP_060641.2:n.1459+121_1459+124delinsGTTC...
XM_006719472.1:c.1477+121_1477+124delinsGTTC XP_006719535.1:n.1477+121_1477+124delinsG...
XM_011538530.1:c.1438+121_1438+124delinsGTTC XP_011536832.1:n.1438+121_1438+124delinsG...
XM_011538531.1:c.1348+121_1348+124delinsGTTC XP_011536833.1:n.1348+121_1348+124delinsG...
XM_011538532.1:c.1348+121_1348+124delinsGTTC XP_011536834.1:n.1348+121_1348+124delinsG...
XM_011538530.3:c.1438+121_1438+124delinsGTTC XP_011536832.1:n.1438+121_1438+124delinsG...
XM_011538531.3:c.1348+121_1348+124delinsGTTC XP_011536833.1:n.1348+121_1348+124delinsG...
XM_011538532.3:c.1348+121_1348+124delinsGTTC XP_011536834.1:n.1348+121_1348+124delinsG...
XM_017019551.2:c.1420+121_1420+124delinsGTTC XP_016875040.1:n.1420+121_1420+124delinsG...
XM_017019552.2:c.1330+121_1330+124delinsGTTC XP_016875041.1:n.1330+121_1330+124delinsG...
XM_017019553.2:c.1330+121_1330+124delinsGTTC XP_016875042.1:n.1330+121_1330+124delinsG...
XM_017019554.1:c.1459+121_1459+124delinsGTTC XP_016875043.1:n.1459+121_1459+124delinsG...
XR_001748795.1:n.1639+121_1639+124delinsGTTC
XR_001748796.1:n.1621+121_1621+124delinsGTTC
NM_018171.4:c.1459+121_1459+124delinsGTTC NP_060641.2:n.1459+121_1459+124delinsGTTC...
NM_018171.5:c.1459+121_1459+124delinsGTTC MANE Select NP_060641.2:n.1459+121_1459+124delinsGTTC...
NM_001251904.2:c.1477+121_1477+124delinsGTTC NP_001238833.1:n.1477+121_1477+124delinsG...
NM_001251905.2:c.1330+121_1330+124delinsGTTC NP_001238834.1:n.1330+121_1330+124delinsG...