Canonical Allele Identifier: CA2060497374

Gene: APPL2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189469_105189476delinsATTTCCAG , CM000674.2:g.105189469_105189476delinsATTTCCAG	GRCh38
NC_000012.11:g.105583247_105583254delinsATTTCCAG , CM000674.1:g.105583247_105583254delinsATTTCCAG	GRCh37
NC_000012.10:g.104107377_104107384delinsATTTCCAG	NCBI36
NG_030419.1:g.51755_51762delinsCTGGAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258530.8:c.1459+296_1459+303delinsCTGGAAAT MANE Select	ENSP00000258530.3:n.1459+296_1459+303delinsCTGGAAAT
ENST00000258530.7:c.1459+296_1459+303delinsCTGGAAAT	ENSP00000258530.3:n.1459+296_1459+303delinsCTGGAAAT
ENST00000539978.6:c.1330+296_1330+303delinsCTGGAAAT	ENSP00000444472.2:n.1330+296_1330+303delinsCTGGAAAT
ENST00000547439.5:c.*744+296_*744+303delinsCTGGAAAT	ENSP00000449410.1:n.*744+296_*744+303delinsCTGGAAAT
ENST00000547809.5:n.1469+296_1469+303delinsCTGGAAAT
ENST00000551662.5:c.1477+296_1477+303delinsCTGGAAAT	ENSP00000446917.1:n.1477+296_1477+303delinsCTGGAAAT
ENST00000552945.1:n.299+296_299+303delinsCTGGAAAT
ENST00000553109.1:c.103+296_103+303delinsCTGGAAAT	ENSP00000446510.1:n.103+296_103+303delinsCTGGAAAT
NM_001251904.1:c.1477+296_1477+303delinsCTGGAAAT	NP_001238833.1:n.1477+296_1477+303delinsCTGGAAAT
NM_001251905.1:c.1330+296_1330+303delinsCTGGAAAT	NP_001238834.1:n.1330+296_1330+303delinsCTGGAAAT
NM_018171.3:c.1459+296_1459+303delinsCTGGAAAT	NP_060641.2:n.1459+296_1459+303delinsCTGGAAAT
XM_006719472.1:c.1477+296_1477+303delinsCTGGAAAT	XP_006719535.1:n.1477+296_1477+303delinsCTGGAAAT
XM_011538530.1:c.1438+296_1438+303delinsCTGGAAAT	XP_011536832.1:n.1438+296_1438+303delinsCTGGAAAT
XM_011538531.1:c.1348+296_1348+303delinsCTGGAAAT	XP_011536833.1:n.1348+296_1348+303delinsCTGGAAAT
XM_011538532.1:c.1348+296_1348+303delinsCTGGAAAT	XP_011536834.1:n.1348+296_1348+303delinsCTGGAAAT
XM_011538530.3:c.1438+296_1438+303delinsCTGGAAAT	XP_011536832.1:n.1438+296_1438+303delinsCTGGAAAT
XM_011538531.3:c.1348+296_1348+303delinsCTGGAAAT	XP_011536833.1:n.1348+296_1348+303delinsCTGGAAAT
XM_011538532.3:c.1348+296_1348+303delinsCTGGAAAT	XP_011536834.1:n.1348+296_1348+303delinsCTGGAAAT
XM_017019551.2:c.1420+296_1420+303delinsCTGGAAAT	XP_016875040.1:n.1420+296_1420+303delinsCTGGAAAT
XM_017019552.2:c.1330+296_1330+303delinsCTGGAAAT	XP_016875041.1:n.1330+296_1330+303delinsCTGGAAAT
XM_017019553.2:c.1330+296_1330+303delinsCTGGAAAT	XP_016875042.1:n.1330+296_1330+303delinsCTGGAAAT
XM_017019554.1:c.1459+296_1459+303delinsCTGGAAAT	XP_016875043.1:n.1459+296_1459+303delinsCTGGAAAT
XR_001748795.1:n.1639+296_1639+303delinsCTGGAAAT
XR_001748796.1:n.1621+296_1621+303delinsCTGGAAAT
NM_018171.4:c.1459+296_1459+303delinsCTGGAAAT	NP_060641.2:n.1459+296_1459+303delinsCTGGAAAT
NM_018171.5:c.1459+296_1459+303delinsCTGGAAAT MANE Select	NP_060641.2:n.1459+296_1459+303delinsCTGGAAAT
NM_001251904.2:c.1477+296_1477+303delinsCTGGAAAT	NP_001238833.1:n.1477+296_1477+303delinsCTGGAAAT
NM_001251905.2:c.1330+296_1330+303delinsCTGGAAAT	NP_001238834.1:n.1330+296_1330+303delinsCTGGAAAT