Canonical Allele Identifier: CA2060497368

Gene: APPL2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189459_105189461delinsGAC , CM000674.2:g.105189459_105189461delinsGAC	GRCh38
NC_000012.11:g.105583237_105583239delinsGAC , CM000674.1:g.105583237_105583239delinsGAC	GRCh37
NC_000012.10:g.104107367_104107369delinsGAC	NCBI36
NG_030419.1:g.51770_51772delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
NM_018171.5:c.1459+311_1459+313delinsGTC MANE Select	NP_060641.2:n.1459+311_1459+313delinsGTC
ENST00000258530.8:c.1459+311_1459+313delinsGTC MANE Select	ENSP00000258530.3:n.1459+311_1459+313delinsGTC
NM_001251904.1:c.1477+311_1477+313delinsGTC	NP_001238833.1:n.1477+311_1477+313delinsGTC
NM_001251904.2:c.1477+311_1477+313delinsGTC	NP_001238833.1:n.1477+311_1477+313delinsGTC
NM_001251905.1:c.1330+311_1330+313delinsGTC	NP_001238834.1:n.1330+311_1330+313delinsGTC
NM_001251905.2:c.1330+311_1330+313delinsGTC	NP_001238834.1:n.1330+311_1330+313delinsGTC
NM_018171.3:c.1459+311_1459+313delinsGTC	NP_060641.2:n.1459+311_1459+313delinsGTC
NM_018171.4:c.1459+311_1459+313delinsGTC	NP_060641.2:n.1459+311_1459+313delinsGTC
ENST00000258530.7:c.1459+311_1459+313delinsGTC	ENSP00000258530.3:n.1459+311_1459+313delinsGTC
ENST00000539978.6:c.1330+311_1330+313delinsGTC	ENSP00000444472.2:n.1330+311_1330+313delinsGTC
ENST00000547439.5:c.*744+311_*744+313delinsGTC	ENSP00000449410.1:n.*744+311_*744+313delinsGTC
ENST00000547809.5:n.1469+311_1469+313delinsGTC
ENST00000551662.5:c.1477+311_1477+313delinsGTC	ENSP00000446917.1:n.1477+311_1477+313delinsGTC
ENST00000552945.1:n.299+311_299+313delinsGTC
ENST00000553109.1:c.103+311_103+313delinsGTC	ENSP00000446510.1:n.103+311_103+313delinsGTC
XM_006719472.1:c.1477+311_1477+313delinsGTC	XP_006719535.1:n.1477+311_1477+313delinsGTC
XM_011538530.1:c.1438+311_1438+313delinsGTC	XP_011536832.1:n.1438+311_1438+313delinsGTC
XM_011538530.3:c.1438+311_1438+313delinsGTC	XP_011536832.1:n.1438+311_1438+313delinsGTC
XM_011538531.1:c.1348+311_1348+313delinsGTC	XP_011536833.1:n.1348+311_1348+313delinsGTC
XM_011538531.3:c.1348+311_1348+313delinsGTC	XP_011536833.1:n.1348+311_1348+313delinsGTC
XM_011538532.1:c.1348+311_1348+313delinsGTC	XP_011536834.1:n.1348+311_1348+313delinsGTC
XM_011538532.3:c.1348+311_1348+313delinsGTC	XP_011536834.1:n.1348+311_1348+313delinsGTC
XM_017019551.2:c.1420+311_1420+313delinsGTC	XP_016875040.1:n.1420+311_1420+313delinsGTC
XM_017019552.2:c.1330+311_1330+313delinsGTC	XP_016875041.1:n.1330+311_1330+313delinsGTC
XM_017019553.2:c.1330+311_1330+313delinsGTC	XP_016875042.1:n.1330+311_1330+313delinsGTC
XM_017019554.1:c.1459+311_1459+313delinsGTC	XP_016875043.1:n.1459+311_1459+313delinsGTC
XR_001748795.1:n.1639+311_1639+313delinsGTC
XR_001748796.1:n.1621+311_1621+313delinsGTC