Canonical Allele Identifier: CA2060497541
Gene: APPL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105189826_105189838delinsTAGGGGAATAGCC , CM000674.2:g.105189826_105189838delinsTAGGGGAATAGCC GRCh38
NC_000012.11:g.105583604_105583616delinsTAGGGGAATAGCC , CM000674.1:g.105583604_105583616delinsTAGGGGAATAGCC GRCh37
NC_000012.10:g.104107734_104107746delinsTAGGGGAATAGCC NCBI36
NG_030419.1:g.51393_51405delinsGGCTATTCCCCTA

Transcript Alleles

HGVS Amino-acid change
ENST00000258530.8:c.1407-14_1407-2delinsGGCTATTCCCCTA MANE Select ENSP00000258530.3:n.1407-14_1407-2delinsG...
ENST00000258530.7:c.1407-14_1407-2delinsGGCTATTCCCCTA ENSP00000258530.3:n.1407-14_1407-2delinsG...
ENST00000539978.6:c.1278-14_1278-2delinsGGCTATTCCCCTA ENSP00000444472.2:n.1278-14_1278-2delinsG...
ENST00000547439.5:c.*692-14_*692-2delinsGGCTATTCCCCTA ENSP00000449410.1:n.*692-14_*692-2delinsG...
ENST00000547809.5:n.1417-14_1417-2delinsGGCTATTCCCCTA
ENST00000551662.5:c.1425-14_1425-2delinsGGCTATTCCCCTA ENSP00000446917.1:n.1425-14_1425-2delinsG...
ENST00000552945.1:n.233_245delinsGGCTATTCCCCTA
ENST00000553109.1:c.51-14_51-2delinsGGCTATTCCCCTA ENSP00000446510.1:n.51-14_51-2delinsGGCTA...
NM_001251904.1:c.1425-14_1425-2delinsGGCTATTCCCCTA NP_001238833.1:n.1425-14_1425-2delinsGGCT...
NM_001251905.1:c.1278-14_1278-2delinsGGCTATTCCCCTA NP_001238834.1:n.1278-14_1278-2delinsGGCT...
NM_018171.3:c.1407-14_1407-2delinsGGCTATTCCCCTA NP_060641.2:n.1407-14_1407-2delinsGGCTATT...
XM_006719472.1:c.1425-14_1425-2delinsGGCTATTCCCCTA XP_006719535.1:n.1425-14_1425-2delinsGGCT...
XM_011538530.1:c.1386-14_1386-2delinsGGCTATTCCCCTA XP_011536832.1:n.1386-14_1386-2delinsGGCT...
XM_011538531.1:c.1296-14_1296-2delinsGGCTATTCCCCTA XP_011536833.1:n.1296-14_1296-2delinsGGCT...
XM_011538532.1:c.1296-14_1296-2delinsGGCTATTCCCCTA XP_011536834.1:n.1296-14_1296-2delinsGGCT...
XM_011538530.3:c.1386-14_1386-2delinsGGCTATTCCCCTA XP_011536832.1:n.1386-14_1386-2delinsGGCT...
XM_011538531.3:c.1296-14_1296-2delinsGGCTATTCCCCTA XP_011536833.1:n.1296-14_1296-2delinsGGCT...
XM_011538532.3:c.1296-14_1296-2delinsGGCTATTCCCCTA XP_011536834.1:n.1296-14_1296-2delinsGGCT...
XM_017019551.2:c.1368-14_1368-2delinsGGCTATTCCCCTA XP_016875040.1:n.1368-14_1368-2delinsGGCT...
XM_017019552.2:c.1278-14_1278-2delinsGGCTATTCCCCTA XP_016875041.1:n.1278-14_1278-2delinsGGCT...
XM_017019553.2:c.1278-14_1278-2delinsGGCTATTCCCCTA XP_016875042.1:n.1278-14_1278-2delinsGGCT...
XM_017019554.1:c.1407-14_1407-2delinsGGCTATTCCCCTA XP_016875043.1:n.1407-14_1407-2delinsGGCT...
XR_001748795.1:n.1587-14_1587-2delinsGGCTATTCCCCTA
XR_001748796.1:n.1569-14_1569-2delinsGGCTATTCCCCTA
NM_018171.4:c.1407-14_1407-2delinsGGCTATTCCCCTA NP_060641.2:n.1407-14_1407-2delinsGGCTATT...
NM_018171.5:c.1407-14_1407-2delinsGGCTATTCCCCTA MANE Select NP_060641.2:n.1407-14_1407-2delinsGGCTATT...
NM_001251904.2:c.1425-14_1425-2delinsGGCTATTCCCCTA NP_001238833.1:n.1425-14_1425-2delinsGGCT...
NM_001251905.2:c.1278-14_1278-2delinsGGCTATTCCCCTA NP_001238834.1:n.1278-14_1278-2delinsGGCT...