Canonical Allele Identifier: CA2060497408

Gene: APPL2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189542_105189543delinsCA , CM000674.2:g.105189542_105189543delinsCA	GRCh38
NC_000012.11:g.105583320_105583321delinsCA , CM000674.1:g.105583320_105583321delinsCA	GRCh37
NC_000012.10:g.104107450_104107451delinsCA	NCBI36
NG_030419.1:g.51688_51689delinsTG

Transcript Alleles

HGVS	Amino-acid Change
NM_018171.5:c.1459+229_1459+230delinsTG MANE Select	NP_060641.2:n.1459+229_1459+230delinsTG
ENST00000258530.8:c.1459+229_1459+230delinsTG MANE Select	ENSP00000258530.3:n.1459+229_1459+230delinsTG
NM_001251904.1:c.1477+229_1477+230delinsTG	NP_001238833.1:n.1477+229_1477+230delinsTG
NM_001251904.2:c.1477+229_1477+230delinsTG	NP_001238833.1:n.1477+229_1477+230delinsTG
NM_001251905.1:c.1330+229_1330+230delinsTG	NP_001238834.1:n.1330+229_1330+230delinsTG
NM_001251905.2:c.1330+229_1330+230delinsTG	NP_001238834.1:n.1330+229_1330+230delinsTG
NM_018171.3:c.1459+229_1459+230delinsTG	NP_060641.2:n.1459+229_1459+230delinsTG
NM_018171.4:c.1459+229_1459+230delinsTG	NP_060641.2:n.1459+229_1459+230delinsTG
ENST00000258530.7:c.1459+229_1459+230delinsTG	ENSP00000258530.3:n.1459+229_1459+230delinsTG
ENST00000539978.6:c.1330+229_1330+230delinsTG	ENSP00000444472.2:n.1330+229_1330+230delinsTG
ENST00000547439.5:c.*744+229_*744+230delinsTG	ENSP00000449410.1:n.*744+229_*744+230delinsTG
ENST00000547809.5:n.1469+229_1469+230delinsTG
ENST00000551662.5:c.1477+229_1477+230delinsTG	ENSP00000446917.1:n.1477+229_1477+230delinsTG
ENST00000552945.1:n.299+229_299+230delinsTG
ENST00000553109.1:c.103+229_103+230delinsTG	ENSP00000446510.1:n.103+229_103+230delinsTG
XM_006719472.1:c.1477+229_1477+230delinsTG	XP_006719535.1:n.1477+229_1477+230delinsTG
XM_011538530.1:c.1438+229_1438+230delinsTG	XP_011536832.1:n.1438+229_1438+230delinsTG
XM_011538530.3:c.1438+229_1438+230delinsTG	XP_011536832.1:n.1438+229_1438+230delinsTG
XM_011538531.1:c.1348+229_1348+230delinsTG	XP_011536833.1:n.1348+229_1348+230delinsTG
XM_011538531.3:c.1348+229_1348+230delinsTG	XP_011536833.1:n.1348+229_1348+230delinsTG
XM_011538532.1:c.1348+229_1348+230delinsTG	XP_011536834.1:n.1348+229_1348+230delinsTG
XM_011538532.3:c.1348+229_1348+230delinsTG	XP_011536834.1:n.1348+229_1348+230delinsTG
XM_017019551.2:c.1420+229_1420+230delinsTG	XP_016875040.1:n.1420+229_1420+230delinsTG
XM_017019552.2:c.1330+229_1330+230delinsTG	XP_016875041.1:n.1330+229_1330+230delinsTG
XM_017019553.2:c.1330+229_1330+230delinsTG	XP_016875042.1:n.1330+229_1330+230delinsTG
XM_017019554.1:c.1459+229_1459+230delinsTG	XP_016875043.1:n.1459+229_1459+230delinsTG
XR_001748795.1:n.1639+229_1639+230delinsTG
XR_001748796.1:n.1621+229_1621+230delinsTG