Canonical Allele Identifier: CA2995460459
Gene: APPL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105189743del , CM000674.2:g.105189743del GRCh38
NC_000012.11:g.105583521del , CM000674.1:g.105583521del GRCh37
NC_000012.10:g.104107651del NCBI36
NG_030419.1:g.51490del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258530.8:c.1459+31del MANE Select ENSP00000258530.3:n.1459+31del
ENST00000258530.7:c.1459+31del ENSP00000258530.3:n.1459+31del
ENST00000539978.6:c.1330+31del ENSP00000444472.2:n.1330+31del
ENST00000547439.5:c.*744+31del ENSP00000449410.1:n.*744+31del
ENST00000547809.5:n.1469+31del
ENST00000551662.5:c.1477+31del ENSP00000446917.1:n.1477+31del
ENST00000552945.1:n.299+31del
ENST00000553109.1:c.103+31del ENSP00000446510.1:n.103+31del
NM_001251904.1:c.1477+31del NP_001238833.1:n.1477+31del
NM_001251905.1:c.1330+31del NP_001238834.1:n.1330+31del
NM_018171.3:c.1459+31del NP_060641.2:n.1459+31del
XM_006719472.1:c.1477+31del XP_006719535.1:n.1477+31del
XM_011538530.1:c.1438+31del XP_011536832.1:n.1438+31del
XM_011538531.1:c.1348+31del XP_011536833.1:n.1348+31del
XM_011538532.1:c.1348+31del XP_011536834.1:n.1348+31del
XM_011538530.3:c.1438+31del XP_011536832.1:n.1438+31del
XM_011538531.3:c.1348+31del XP_011536833.1:n.1348+31del
XM_011538532.3:c.1348+31del XP_011536834.1:n.1348+31del
XM_017019551.2:c.1420+31del XP_016875040.1:n.1420+31del
XM_017019552.2:c.1330+31del XP_016875041.1:n.1330+31del
XM_017019553.2:c.1330+31del XP_016875042.1:n.1330+31del
XM_017019554.1:c.1459+31del XP_016875043.1:n.1459+31del
XR_001748795.1:n.1639+31del
XR_001748796.1:n.1621+31del
NM_018171.4:c.1459+31del NP_060641.2:n.1459+31del
NM_018171.5:c.1459+31del MANE Select NP_060641.2:n.1459+31del
NM_001251904.2:c.1477+31del NP_001238833.1:n.1477+31del
NM_001251905.2:c.1330+31del NP_001238834.1:n.1330+31del