Canonical Allele Identifier: CA2060497505
Gene: APPL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105189741_105189744delinsAAAG , CM000674.2:g.105189741_105189744delinsAAAG GRCh38
NC_000012.11:g.105583519_105583522delinsAAAG , CM000674.1:g.105583519_105583522delinsAAAG GRCh37
NC_000012.10:g.104107649_104107652delinsAAAG NCBI36
NG_030419.1:g.51487_51490delinsCTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000258530.8:c.1459+28_1459+31delinsCTTT MANE Select ENSP00000258530.3:n.1459+28_1459+31delins...
ENST00000258530.7:c.1459+28_1459+31delinsCTTT ENSP00000258530.3:n.1459+28_1459+31delins...
ENST00000539978.6:c.1330+28_1330+31delinsCTTT ENSP00000444472.2:n.1330+28_1330+31delins...
ENST00000547439.5:c.*744+28_*744+31delinsCTTT ENSP00000449410.1:n.*744+28_*744+31delins...
ENST00000547809.5:n.1469+28_1469+31delinsCTTT
ENST00000551662.5:c.1477+28_1477+31delinsCTTT ENSP00000446917.1:n.1477+28_1477+31delins...
ENST00000552945.1:n.299+28_299+31delinsCTTT
ENST00000553109.1:n.103+28_103+31delinsCTTT ENSP00000446510.1:n.103+28_103+31delinsCT...
NM_001251904.1:c.1477+28_1477+31delinsCTTT NP_001238833.1:n.1477+28_1477+31delinsCTT...
NM_001251905.1:c.1330+28_1330+31delinsCTTT NP_001238834.1:n.1330+28_1330+31delinsCTT...
NM_018171.3:c.1459+28_1459+31delinsCTTT NP_060641.2:n.1459+28_1459+31delinsCTTT
XM_006719472.1:c.1477+28_1477+31delinsCTTT XP_006719535.1:n.1477+28_1477+31delinsCTT...
XM_011538530.1:c.1438+28_1438+31delinsCTTT XP_011536832.1:n.1438+28_1438+31delinsCTT...
XM_011538531.1:c.1348+28_1348+31delinsCTTT XP_011536833.1:n.1348+28_1348+31delinsCTT...
XM_011538532.1:c.1348+28_1348+31delinsCTTT XP_011536834.1:n.1348+28_1348+31delinsCTT...
XM_011538530.3:c.1438+28_1438+31delinsCTTT XP_011536832.1:n.1438+28_1438+31delinsCTT...
XM_011538531.3:c.1348+28_1348+31delinsCTTT XP_011536833.1:n.1348+28_1348+31delinsCTT...
XM_011538532.3:c.1348+28_1348+31delinsCTTT XP_011536834.1:n.1348+28_1348+31delinsCTT...
XM_017019551.2:c.1420+28_1420+31delinsCTTT XP_016875040.1:n.1420+28_1420+31delinsCTT...
XM_017019552.2:c.1330+28_1330+31delinsCTTT XP_016875041.1:n.1330+28_1330+31delinsCTT...
XM_017019553.2:c.1330+28_1330+31delinsCTTT XP_016875042.1:n.1330+28_1330+31delinsCTT...
XM_017019554.1:c.1459+28_1459+31delinsCTTT XP_016875043.1:n.1459+28_1459+31delinsCTT...
XR_001748795.1:n.1639+28_1639+31delinsCTTT
XR_001748796.1:n.1621+28_1621+31delinsCTTT
NM_018171.4:c.1459+28_1459+31delinsCTTT NP_060641.2:n.1459+28_1459+31delinsCTTT
NM_018171.5:c.1459+28_1459+31delinsCTTT MANE Select NP_060641.2:n.1459+28_1459+31delinsCTTT
NM_001251904.2:c.1477+28_1477+31delinsCTTT NP_001238833.1:n.1477+28_1477+31delinsCTT...
NM_001251905.2:c.1330+28_1330+31delinsCTTT NP_001238834.1:n.1330+28_1330+31delinsCTT...