Canonical Allele Identifier: CA2620630041

Gene: APPL2

Linked Data

• gnomAD v4: 12-105189884-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189885_105189886del , CM000674.2:g.105189885_105189886del	GRCh38
NC_000012.11:g.105583663_105583664del , CM000674.1:g.105583663_105583664del	GRCh37
NC_000012.10:g.104107793_104107794del	NCBI36
NG_030419.1:g.51345_51346del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1407-62_1407-61del MANE Select	ENSP00000258530.3:n.1407-62_1407-61del
ENST00000258530.7:c.1407-62_1407-61del	ENSP00000258530.3:n.1407-62_1407-61del
ENST00000539978.6:c.1278-62_1278-61del	ENSP00000444472.2:n.1278-62_1278-61del
ENST00000547439.5:c.*692-62_*692-61del	ENSP00000449410.1:n.*692-62_*692-61del
ENST00000547809.5:n.1417-62_1417-61del
ENST00000551662.5:c.1425-62_1425-61del	ENSP00000446917.1:n.1425-62_1425-61del
ENST00000552945.1:n.185_186del
ENST00000553109.1:c.51-62_51-61del	ENSP00000446510.1:n.51-62_51-61del
NM_001251904.1:c.1425-62_1425-61del	NP_001238833.1:n.1425-62_1425-61del
NM_001251905.1:c.1278-62_1278-61del	NP_001238834.1:n.1278-62_1278-61del
NM_018171.3:c.1407-62_1407-61del	NP_060641.2:n.1407-62_1407-61del
XM_006719472.1:c.1425-62_1425-61del	XP_006719535.1:n.1425-62_1425-61del
XM_011538530.1:c.1386-62_1386-61del	XP_011536832.1:n.1386-62_1386-61del
XM_011538531.1:c.1296-62_1296-61del	XP_011536833.1:n.1296-62_1296-61del
XM_011538532.1:c.1296-62_1296-61del	XP_011536834.1:n.1296-62_1296-61del
XM_011538530.3:c.1386-62_1386-61del	XP_011536832.1:n.1386-62_1386-61del
XM_011538531.3:c.1296-62_1296-61del	XP_011536833.1:n.1296-62_1296-61del
XM_011538532.3:c.1296-62_1296-61del	XP_011536834.1:n.1296-62_1296-61del
XM_017019551.2:c.1368-62_1368-61del	XP_016875040.1:n.1368-62_1368-61del
XM_017019552.2:c.1278-62_1278-61del	XP_016875041.1:n.1278-62_1278-61del
XM_017019553.2:c.1278-62_1278-61del	XP_016875042.1:n.1278-62_1278-61del
XM_017019554.1:c.1407-62_1407-61del	XP_016875043.1:n.1407-62_1407-61del
XR_001748795.1:n.1587-62_1587-61del
XR_001748796.1:n.1569-62_1569-61del
NM_018171.4:c.1407-62_1407-61del	NP_060641.2:n.1407-62_1407-61del
NM_018171.5:c.1407-62_1407-61del MANE Select	NP_060641.2:n.1407-62_1407-61del
NM_001251904.2:c.1425-62_1425-61del	NP_001238833.1:n.1425-62_1425-61del
NM_001251905.2:c.1278-62_1278-61del	NP_001238834.1:n.1278-62_1278-61del