Canonical Allele Identifier: CA2620630040

Gene: APPL2

Linked Data

• gnomAD v4: 12-105189879-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189879_105189880insTC , CM000674.2:g.105189879_105189880insTC	GRCh38
NC_000012.11:g.105583657_105583658insTC , CM000674.1:g.105583657_105583658insTC	GRCh37
NC_000012.10:g.104107787_104107788insTC	NCBI36
NG_030419.1:g.51351_51352insGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1407-56_1407-55insGA MANE Select	ENSP00000258530.3:n.1407-56_1407-55insGA
ENST00000258530.7:c.1407-56_1407-55insGA	ENSP00000258530.3:n.1407-56_1407-55insGA
ENST00000539978.6:c.1278-56_1278-55insGA	ENSP00000444472.2:n.1278-56_1278-55insGA
ENST00000547439.5:c.*692-56_*692-55insGA	ENSP00000449410.1:n.*692-56_*692-55insGA
ENST00000547809.5:n.1417-56_1417-55insGA
ENST00000551662.5:c.1425-56_1425-55insGA	ENSP00000446917.1:n.1425-56_1425-55insGA
ENST00000552945.1:n.191_192insGA
ENST00000553109.1:c.51-56_51-55insGA	ENSP00000446510.1:n.51-56_51-55insGA
NM_001251904.1:c.1425-56_1425-55insGA	NP_001238833.1:n.1425-56_1425-55insGA
NM_001251905.1:c.1278-56_1278-55insGA	NP_001238834.1:n.1278-56_1278-55insGA
NM_018171.3:c.1407-56_1407-55insGA	NP_060641.2:n.1407-56_1407-55insGA
XM_006719472.1:c.1425-56_1425-55insGA	XP_006719535.1:n.1425-56_1425-55insGA
XM_011538530.1:c.1386-56_1386-55insGA	XP_011536832.1:n.1386-56_1386-55insGA
XM_011538531.1:c.1296-56_1296-55insGA	XP_011536833.1:n.1296-56_1296-55insGA
XM_011538532.1:c.1296-56_1296-55insGA	XP_011536834.1:n.1296-56_1296-55insGA
XM_011538530.3:c.1386-56_1386-55insGA	XP_011536832.1:n.1386-56_1386-55insGA
XM_011538531.3:c.1296-56_1296-55insGA	XP_011536833.1:n.1296-56_1296-55insGA
XM_011538532.3:c.1296-56_1296-55insGA	XP_011536834.1:n.1296-56_1296-55insGA
XM_017019551.2:c.1368-56_1368-55insGA	XP_016875040.1:n.1368-56_1368-55insGA
XM_017019552.2:c.1278-56_1278-55insGA	XP_016875041.1:n.1278-56_1278-55insGA
XM_017019553.2:c.1278-56_1278-55insGA	XP_016875042.1:n.1278-56_1278-55insGA
XM_017019554.1:c.1407-56_1407-55insGA	XP_016875043.1:n.1407-56_1407-55insGA
XR_001748795.1:n.1587-56_1587-55insGA
XR_001748796.1:n.1569-56_1569-55insGA
NM_018171.4:c.1407-56_1407-55insGA	NP_060641.2:n.1407-56_1407-55insGA
NM_018171.5:c.1407-56_1407-55insGA MANE Select	NP_060641.2:n.1407-56_1407-55insGA
NM_001251904.2:c.1425-56_1425-55insGA	NP_001238833.1:n.1425-56_1425-55insGA
NM_001251905.2:c.1278-56_1278-55insGA	NP_001238834.1:n.1278-56_1278-55insGA