Canonical Allele Identifier: CA683096275

Gene: APPL2

Linked Data

• dbSNP Id: rs1333102334
• gnomAD v3: 12-105189678-CAT-C
• gnomAD v4: 12-105189678-CAT-C
• MyVariant Identifiers: chr12:g.105583457_105583458del (hg19) ; chr12:g.105189679_105189680del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189680_105189681del , CM000674.2:g.105189680_105189681del	GRCh38
NC_000012.11:g.105583458_105583459del , CM000674.1:g.105583458_105583459del	GRCh37
NC_000012.10:g.104107588_104107589del	NCBI36
NG_030419.1:g.51551_51552del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1459+92_1459+93del MANE Select	ENSP00000258530.3:n.1459+92_1459+93del
ENST00000258530.7:c.1459+92_1459+93del	ENSP00000258530.3:n.1459+92_1459+93del
ENST00000539978.6:c.1330+92_1330+93del	ENSP00000444472.2:n.1330+92_1330+93del
ENST00000547439.5:c.*744+92_*744+93del	ENSP00000449410.1:n.*744+92_*744+93del
ENST00000547809.5:n.1469+92_1469+93del
ENST00000551662.5:c.1477+92_1477+93del	ENSP00000446917.1:n.1477+92_1477+93del
ENST00000552945.1:n.299+92_299+93del
ENST00000553109.1:c.103+92_103+93del	ENSP00000446510.1:n.103+92_103+93del
NM_001251904.1:c.1477+92_1477+93del	NP_001238833.1:n.1477+92_1477+93del
NM_001251905.1:c.1330+92_1330+93del	NP_001238834.1:n.1330+92_1330+93del
NM_018171.3:c.1459+92_1459+93del	NP_060641.2:n.1459+92_1459+93del
XM_006719472.1:c.1477+92_1477+93del	XP_006719535.1:n.1477+92_1477+93del
XM_011538530.1:c.1438+92_1438+93del	XP_011536832.1:n.1438+92_1438+93del
XM_011538531.1:c.1348+92_1348+93del	XP_011536833.1:n.1348+92_1348+93del
XM_011538532.1:c.1348+92_1348+93del	XP_011536834.1:n.1348+92_1348+93del
XM_011538530.3:c.1438+92_1438+93del	XP_011536832.1:n.1438+92_1438+93del
XM_011538531.3:c.1348+92_1348+93del	XP_011536833.1:n.1348+92_1348+93del
XM_011538532.3:c.1348+92_1348+93del	XP_011536834.1:n.1348+92_1348+93del
XM_017019551.2:c.1420+92_1420+93del	XP_016875040.1:n.1420+92_1420+93del
XM_017019552.2:c.1330+92_1330+93del	XP_016875041.1:n.1330+92_1330+93del
XM_017019553.2:c.1330+92_1330+93del	XP_016875042.1:n.1330+92_1330+93del
XM_017019554.1:c.1459+92_1459+93del	XP_016875043.1:n.1459+92_1459+93del
XR_001748795.1:n.1639+92_1639+93del
XR_001748796.1:n.1621+92_1621+93del
NM_018171.4:c.1459+92_1459+93del	NP_060641.2:n.1459+92_1459+93del
NM_018171.5:c.1459+92_1459+93del MANE Select	NP_060641.2:n.1459+92_1459+93del
NM_001251904.2:c.1477+92_1477+93del	NP_001238833.1:n.1477+92_1477+93del
NM_001251905.2:c.1330+92_1330+93del	NP_001238834.1:n.1330+92_1330+93del