Canonical Allele Identifier: CA6759539

Gene: APPL2

Linked Data

• dbSNP Id: rs773173237
• ExAC: 12:105583722 CAA / C
• gnomAD v2: 12-105583722-CAA-C
• gnomAD v4: 12-105189944-CAA-C
• MyVariant Identifiers: chr12:g.105583723_105583724del (hg19) ; chr12:g.105189945_105189946del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189946_105189947del , CM000674.2:g.105189946_105189947del	GRCh38
NC_000012.11:g.105583724_105583725del , CM000674.1:g.105583724_105583725del	GRCh37
NC_000012.10:g.104107854_104107855del	NCBI36
NG_030419.1:g.51285_51286del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1406+45_1406+46del MANE Select	ENSP00000258530.3:n.1406+45_1406+46del
ENST00000258530.7:c.1406+45_1406+46del	ENSP00000258530.3:n.1406+45_1406+46del
ENST00000539978.6:c.1277+45_1277+46del	ENSP00000444472.2:n.1277+45_1277+46del
ENST00000547439.5:c.*691+45_*691+46del	ENSP00000449410.1:n.*691+45_*691+46del
ENST00000547809.5:n.1416+45_1416+46del
ENST00000551662.5:c.1424+45_1424+46del	ENSP00000446917.1:n.1424+45_1424+46del
ENST00000552945.1:n.181+45_181+46del
ENST00000553109.1:c.50+45_50+46del	ENSP00000446510.1:n.50+45_50+46del
NM_001251904.1:c.1424+45_1424+46del	NP_001238833.1:n.1424+45_1424+46del
NM_001251905.1:c.1277+45_1277+46del	NP_001238834.1:n.1277+45_1277+46del
NM_018171.3:c.1406+45_1406+46del	NP_060641.2:n.1406+45_1406+46del
XM_006719472.1:c.1424+45_1424+46del	XP_006719535.1:n.1424+45_1424+46del
XM_011538530.1:c.1385+45_1385+46del	XP_011536832.1:n.1385+45_1385+46del
XM_011538531.1:c.1295+45_1295+46del	XP_011536833.1:n.1295+45_1295+46del
XM_011538532.1:c.1295+45_1295+46del	XP_011536834.1:n.1295+45_1295+46del
XM_011538530.3:c.1385+45_1385+46del	XP_011536832.1:n.1385+45_1385+46del
XM_011538531.3:c.1295+45_1295+46del	XP_011536833.1:n.1295+45_1295+46del
XM_011538532.3:c.1295+45_1295+46del	XP_011536834.1:n.1295+45_1295+46del
XM_017019551.2:c.1367+45_1367+46del	XP_016875040.1:n.1367+45_1367+46del
XM_017019552.2:c.1277+45_1277+46del	XP_016875041.1:n.1277+45_1277+46del
XM_017019553.2:c.1277+45_1277+46del	XP_016875042.1:n.1277+45_1277+46del
XM_017019554.1:c.1406+45_1406+46del	XP_016875043.1:n.1406+45_1406+46del
XR_001748795.1:n.1586+45_1586+46del
XR_001748796.1:n.1568+45_1568+46del
NM_018171.4:c.1406+45_1406+46del	NP_060641.2:n.1406+45_1406+46del
NM_018171.5:c.1406+45_1406+46del MANE Select	NP_060641.2:n.1406+45_1406+46del
NM_001251904.2:c.1424+45_1424+46del	NP_001238833.1:n.1424+45_1424+46del
NM_001251905.2:c.1277+45_1277+46del	NP_001238834.1:n.1277+45_1277+46del