Canonical Allele Identifier: CA2060497533
Gene: APPL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105189806_105189807delinsAC , CM000674.2:g.105189806_105189807delinsAC GRCh38
NC_000012.11:g.105583584_105583585delinsAC , CM000674.1:g.105583584_105583585delinsAC GRCh37
NC_000012.10:g.104107714_104107715delinsAC NCBI36
NG_030419.1:g.51424_51425delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000258530.8:c.1424_1425delinsGT MANE Select ENSP00000258530.3:p.Gly475=
ENST00000258530.7:c.1424_1425delinsGT ENSP00000258530.3:p.Gly475=
ENST00000539978.6:c.1295_1296delinsGT ENSP00000444472.2:p.Gly432=
ENST00000547439.5:c.*709_*710delinsGT ENSP00000449410.1:n.*709_*710delinsGT
ENST00000547809.5:n.1434_1435delinsGT
ENST00000551662.5:c.1442_1443delinsGT ENSP00000446917.1:p.Gly481=
ENST00000552945.1:n.264_265delinsGT
ENST00000553109.1:c.68_69delinsGT ENSP00000446510.1:p.Gly23=
NM_001251904.1:c.1442_1443delinsGT NP_001238833.1:p.Gly481=
NM_001251905.1:c.1295_1296delinsGT NP_001238834.1:p.Gly432=
NM_018171.3:c.1424_1425delinsGT NP_060641.2:p.Gly475=
XM_006719472.1:c.1442_1443delinsGT XP_006719535.1:p.Gly481=
XM_011538530.1:c.1403_1404delinsGT XP_011536832.1:p.Gly468=
XM_011538531.1:c.1313_1314delinsGT XP_011536833.1:p.Gly438=
XM_011538532.1:c.1313_1314delinsGT XP_011536834.1:p.Gly438=
XM_011538530.3:c.1403_1404delinsGT XP_011536832.1:p.Gly468=
XM_011538531.3:c.1313_1314delinsGT XP_011536833.1:p.Gly438=
XM_011538532.3:c.1313_1314delinsGT XP_011536834.1:p.Gly438=
XM_017019551.2:c.1385_1386delinsGT XP_016875040.1:p.Gly462=
XM_017019552.2:c.1295_1296delinsGT XP_016875041.1:p.Gly432=
XM_017019553.2:c.1295_1296delinsGT XP_016875042.1:p.Gly432=
XM_017019554.1:c.1424_1425delinsGT XP_016875043.1:p.Gly475=
XR_001748795.1:n.1604_1605delinsGT
XR_001748796.1:n.1586_1587delinsGT
NM_018171.4:c.1424_1425delinsGT NP_060641.2:p.Gly475=
NM_018171.5:c.1424_1425delinsGT MANE Select NP_060641.2:p.Gly475=
NM_001251904.2:c.1442_1443delinsGT NP_001238833.1:p.Gly481=
NM_001251905.2:c.1295_1296delinsGT NP_001238834.1:p.Gly432=