Canonical Allele Identifier: CA2620630054

Gene: APPL2

Linked Data

• gnomAD v4: 12-105189915-TTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189922_105189924del , CM000674.2:g.105189922_105189924del	GRCh38
NC_000012.11:g.105583700_105583702del , CM000674.1:g.105583700_105583702del	GRCh37
NC_000012.10:g.104107830_104107832del	NCBI36
NG_030419.1:g.51313_51315del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1406+73_1406+75del MANE Select	ENSP00000258530.3:n.1406+73_1406+75del
ENST00000258530.7:c.1406+73_1406+75del	ENSP00000258530.3:n.1406+73_1406+75del
ENST00000539978.6:c.1277+73_1277+75del	ENSP00000444472.2:n.1277+73_1277+75del
ENST00000547439.5:c.*691+73_*691+75del	ENSP00000449410.1:n.*691+73_*691+75del
ENST00000547809.5:n.1416+73_1416+75del
ENST00000551662.5:c.1424+73_1424+75del	ENSP00000446917.1:n.1424+73_1424+75del
ENST00000552945.1:n.182-29_182-27del
ENST00000553109.1:c.50+73_50+75del	ENSP00000446510.1:n.50+73_50+75del
NM_001251904.1:c.1424+73_1424+75del	NP_001238833.1:n.1424+73_1424+75del
NM_001251905.1:c.1277+73_1277+75del	NP_001238834.1:n.1277+73_1277+75del
NM_018171.3:c.1406+73_1406+75del	NP_060641.2:n.1406+73_1406+75del
XM_006719472.1:c.1424+73_1424+75del	XP_006719535.1:n.1424+73_1424+75del
XM_011538530.1:c.1385+73_1385+75del	XP_011536832.1:n.1385+73_1385+75del
XM_011538531.1:c.1295+73_1295+75del	XP_011536833.1:n.1295+73_1295+75del
XM_011538532.1:c.1295+73_1295+75del	XP_011536834.1:n.1295+73_1295+75del
XM_011538530.3:c.1385+73_1385+75del	XP_011536832.1:n.1385+73_1385+75del
XM_011538531.3:c.1295+73_1295+75del	XP_011536833.1:n.1295+73_1295+75del
XM_011538532.3:c.1295+73_1295+75del	XP_011536834.1:n.1295+73_1295+75del
XM_017019551.2:c.1367+73_1367+75del	XP_016875040.1:n.1367+73_1367+75del
XM_017019552.2:c.1277+73_1277+75del	XP_016875041.1:n.1277+73_1277+75del
XM_017019553.2:c.1277+73_1277+75del	XP_016875042.1:n.1277+73_1277+75del
XM_017019554.1:c.1406+73_1406+75del	XP_016875043.1:n.1406+73_1406+75del
XR_001748795.1:n.1586+73_1586+75del
XR_001748796.1:n.1568+73_1568+75del
NM_018171.4:c.1406+73_1406+75del	NP_060641.2:n.1406+73_1406+75del
NM_018171.5:c.1406+73_1406+75del MANE Select	NP_060641.2:n.1406+73_1406+75del
NM_001251904.2:c.1424+73_1424+75del	NP_001238833.1:n.1424+73_1424+75del
NM_001251905.2:c.1277+73_1277+75del	NP_001238834.1:n.1277+73_1277+75del