Canonical Allele Identifier: CA2060497579
Gene: APPL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.105189907_105189909delinsAAC , CM000674.2:g.105189907_105189909delinsAAC GRCh38
NC_000012.11:g.105583685_105583687delinsAAC , CM000674.1:g.105583685_105583687delinsAAC GRCh37
NC_000012.10:g.104107815_104107817delinsAAC NCBI36
NG_030419.1:g.51322_51324delinsGTT

Transcript Alleles

HGVS Amino-acid change
ENST00000258530.8:c.1406+82_1407-83delinsGTT MANE Select ENSP00000258530.3:n.1406+82_1407-83delins...
ENST00000258530.7:c.1406+82_1407-83delinsGTT ENSP00000258530.3:n.1406+82_1407-83delins...
ENST00000539978.6:c.1277+82_1278-83delinsGTT ENSP00000444472.2:n.1277+82_1278-83delins...
ENST00000547439.5:c.*691+82_*692-83delinsGTT ENSP00000449410.1:n.*691+82_*692-83delins...
ENST00000547809.5:n.1416+82_1417-83delinsGTT
ENST00000551662.5:c.1424+82_1425-83delinsGTT ENSP00000446917.1:n.1424+82_1425-83delins...
ENST00000552945.1:n.182-20_182-18delinsGTT
ENST00000553109.1:c.50+82_51-83delinsGTT ENSP00000446510.1:n.50+82_51-83delinsGTT
NM_001251904.1:c.1424+82_1425-83delinsGTT NP_001238833.1:n.1424+82_1425-83delinsGTT...
NM_001251905.1:c.1277+82_1278-83delinsGTT NP_001238834.1:n.1277+82_1278-83delinsGTT...
NM_018171.3:c.1406+82_1407-83delinsGTT NP_060641.2:n.1406+82_1407-83delinsGTT
XM_006719472.1:c.1424+82_1425-83delinsGTT XP_006719535.1:n.1424+82_1425-83delinsGTT...
XM_011538530.1:c.1385+82_1386-83delinsGTT XP_011536832.1:n.1385+82_1386-83delinsGTT...
XM_011538531.1:c.1295+82_1296-83delinsGTT XP_011536833.1:n.1295+82_1296-83delinsGTT...
XM_011538532.1:c.1295+82_1296-83delinsGTT XP_011536834.1:n.1295+82_1296-83delinsGTT...
XM_011538530.3:c.1385+82_1386-83delinsGTT XP_011536832.1:n.1385+82_1386-83delinsGTT...
XM_011538531.3:c.1295+82_1296-83delinsGTT XP_011536833.1:n.1295+82_1296-83delinsGTT...
XM_011538532.3:c.1295+82_1296-83delinsGTT XP_011536834.1:n.1295+82_1296-83delinsGTT...
XM_017019551.2:c.1367+82_1368-83delinsGTT XP_016875040.1:n.1367+82_1368-83delinsGTT...
XM_017019552.2:c.1277+82_1278-83delinsGTT XP_016875041.1:n.1277+82_1278-83delinsGTT...
XM_017019553.2:c.1277+82_1278-83delinsGTT XP_016875042.1:n.1277+82_1278-83delinsGTT...
XM_017019554.1:c.1406+82_1407-83delinsGTT XP_016875043.1:n.1406+82_1407-83delinsGTT...
XR_001748795.1:n.1586+82_1587-83delinsGTT
XR_001748796.1:n.1568+82_1569-83delinsGTT
NM_018171.4:c.1406+82_1407-83delinsGTT NP_060641.2:n.1406+82_1407-83delinsGTT
NM_018171.5:c.1406+82_1407-83delinsGTT MANE Select NP_060641.2:n.1406+82_1407-83delinsGTT
NM_001251904.2:c.1424+82_1425-83delinsGTT NP_001238833.1:n.1424+82_1425-83delinsGTT...
NM_001251905.2:c.1277+82_1278-83delinsGTT NP_001238834.1:n.1277+82_1278-83delinsGTT...