Canonical Allele Identifier: CA607599372
Gene: APPL2 HGNC NCBI

Linked Data

dbSNP Id: rs1241680232

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105189744_105189746del , CM000674.2:g.105189744_105189746del GRCh38
NC_000012.11:g.105583522_105583524del , CM000674.1:g.105583522_105583524del GRCh37
NC_000012.10:g.104107652_104107654del NCBI36
NG_030419.1:g.51487_51489del

Transcript Alleles

HGVS Amino-acid change
ENST00000258530.8:c.1459+28_1459+30del MANE Select ENSP00000258530.3:n.1459+28_1459+30del
ENST00000258530.7:c.1459+28_1459+30del ENSP00000258530.3:n.1459+28_1459+30del
ENST00000539978.6:c.1330+28_1330+30del ENSP00000444472.2:n.1330+28_1330+30del
ENST00000547439.5:c.*744+28_*744+30del ENSP00000449410.1:n.*744+28_*744+30del
ENST00000547809.5:n.1469+28_1469+30del
ENST00000551662.5:c.1477+28_1477+30del ENSP00000446917.1:n.1477+28_1477+30del
ENST00000552945.1:n.299+28_299+30del
ENST00000553109.1:n.103+28_103+30del ENSP00000446510.1:n.103+28_103+30del
NM_001251904.1:c.1477+28_1477+30del NP_001238833.1:n.1477+28_1477+30del
NM_001251905.1:c.1330+28_1330+30del NP_001238834.1:n.1330+28_1330+30del
NM_018171.3:c.1459+28_1459+30del NP_060641.2:n.1459+28_1459+30del
XM_006719472.1:c.1477+28_1477+30del XP_006719535.1:n.1477+28_1477+30del
XM_011538530.1:c.1438+28_1438+30del XP_011536832.1:n.1438+28_1438+30del
XM_011538531.1:c.1348+28_1348+30del XP_011536833.1:n.1348+28_1348+30del
XM_011538532.1:c.1348+28_1348+30del XP_011536834.1:n.1348+28_1348+30del
XM_011538530.3:c.1438+28_1438+30del XP_011536832.1:n.1438+28_1438+30del
XM_011538531.3:c.1348+28_1348+30del XP_011536833.1:n.1348+28_1348+30del
XM_011538532.3:c.1348+28_1348+30del XP_011536834.1:n.1348+28_1348+30del
XM_017019551.2:c.1420+28_1420+30del XP_016875040.1:n.1420+28_1420+30del
XM_017019552.2:c.1330+28_1330+30del XP_016875041.1:n.1330+28_1330+30del
XM_017019553.2:c.1330+28_1330+30del XP_016875042.1:n.1330+28_1330+30del
XM_017019554.1:c.1459+28_1459+30del XP_016875043.1:n.1459+28_1459+30del
XR_001748795.1:n.1639+28_1639+30del
XR_001748796.1:n.1621+28_1621+30del
NM_018171.4:c.1459+28_1459+30del NP_060641.2:n.1459+28_1459+30del
NM_018171.5:c.1459+28_1459+30del MANE Select NP_060641.2:n.1459+28_1459+30del
NM_001251904.2:c.1477+28_1477+30del NP_001238833.1:n.1477+28_1477+30del
NM_001251905.2:c.1330+28_1330+30del NP_001238834.1:n.1330+28_1330+30del