Canonical Allele Identifier: CA3197759301
Community Standard Title: NM_018171.5(APPL2):c.1459+86_1459+89del
Gene: APPL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105189685_105189688del , CM000674.2:g.105189685_105189688del GRCh38
NC_000012.11:g.105583463_105583466del , CM000674.1:g.105583463_105583466del GRCh37
NC_000012.10:g.104107593_104107596del NCBI36
NG_030419.1:g.51545_51548del

Transcript Alleles

HGVS Amino-acid Change
NM_018171.5:c.1459+86_1459+89del MANE Select NP_060641.2:n.1459+86_1459+89del
ENST00000258530.8:c.1459+86_1459+89del MANE Select ENSP00000258530.3:n.1459+86_1459+89del
NM_001251904.1:c.1477+86_1477+89del NP_001238833.1:n.1477+86_1477+89del
NM_001251904.2:c.1477+86_1477+89del NP_001238833.1:n.1477+86_1477+89del
NM_001251905.1:c.1330+86_1330+89del NP_001238834.1:n.1330+86_1330+89del
NM_001251905.2:c.1330+86_1330+89del NP_001238834.1:n.1330+86_1330+89del
NM_018171.3:c.1459+86_1459+89del NP_060641.2:n.1459+86_1459+89del
NM_018171.4:c.1459+86_1459+89del NP_060641.2:n.1459+86_1459+89del
ENST00000258530.7:c.1459+86_1459+89del ENSP00000258530.3:n.1459+86_1459+89del
ENST00000539978.6:c.1330+86_1330+89del ENSP00000444472.2:n.1330+86_1330+89del
ENST00000547439.5:c.*744+86_*744+89del ENSP00000449410.1:n.*744+86_*744+89del
ENST00000547809.5:n.1469+86_1469+89del
ENST00000551662.5:c.1477+86_1477+89del ENSP00000446917.1:n.1477+86_1477+89del
ENST00000552945.1:n.299+86_299+89del
ENST00000553109.1:c.103+86_103+89del ENSP00000446510.1:n.103+86_103+89del
XM_006719472.1:c.1477+86_1477+89del XP_006719535.1:n.1477+86_1477+89del
XM_011538530.1:c.1438+86_1438+89del XP_011536832.1:n.1438+86_1438+89del
XM_011538530.3:c.1438+86_1438+89del XP_011536832.1:n.1438+86_1438+89del
XM_011538531.1:c.1348+86_1348+89del XP_011536833.1:n.1348+86_1348+89del
XM_011538531.3:c.1348+86_1348+89del XP_011536833.1:n.1348+86_1348+89del
XM_011538532.1:c.1348+86_1348+89del XP_011536834.1:n.1348+86_1348+89del
XM_011538532.3:c.1348+86_1348+89del XP_011536834.1:n.1348+86_1348+89del
XM_017019551.2:c.1420+86_1420+89del XP_016875040.1:n.1420+86_1420+89del
XM_017019552.2:c.1330+86_1330+89del XP_016875041.1:n.1330+86_1330+89del
XM_017019553.2:c.1330+86_1330+89del XP_016875042.1:n.1330+86_1330+89del
XM_017019554.1:c.1459+86_1459+89del XP_016875043.1:n.1459+86_1459+89del
XR_001748795.1:n.1639+86_1639+89del
XR_001748796.1:n.1621+86_1621+89del