Canonical Allele Identifier: CA2620629997

Gene: APPL2

Linked Data

• gnomAD v4: 12-105189693-CATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189696_105189698del , CM000674.2:g.105189696_105189698del	GRCh38
NC_000012.11:g.105583474_105583476del , CM000674.1:g.105583474_105583476del	GRCh37
NC_000012.10:g.104107604_104107606del	NCBI36
NG_030419.1:g.51535_51537del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258530.8:c.1459+76_1459+78del MANE Select	ENSP00000258530.3:n.1459+76_1459+78del
ENST00000258530.7:c.1459+76_1459+78del	ENSP00000258530.3:n.1459+76_1459+78del
ENST00000539978.6:c.1330+76_1330+78del	ENSP00000444472.2:n.1330+76_1330+78del
ENST00000547439.5:c.*744+76_*744+78del	ENSP00000449410.1:n.*744+76_*744+78del
ENST00000547809.5:n.1469+76_1469+78del
ENST00000551662.5:c.1477+76_1477+78del	ENSP00000446917.1:n.1477+76_1477+78del
ENST00000552945.1:n.299+76_299+78del
ENST00000553109.1:c.103+76_103+78del	ENSP00000446510.1:n.103+76_103+78del
NM_001251904.1:c.1477+76_1477+78del	NP_001238833.1:n.1477+76_1477+78del
NM_001251905.1:c.1330+76_1330+78del	NP_001238834.1:n.1330+76_1330+78del
NM_018171.3:c.1459+76_1459+78del	NP_060641.2:n.1459+76_1459+78del
XM_006719472.1:c.1477+76_1477+78del	XP_006719535.1:n.1477+76_1477+78del
XM_011538530.1:c.1438+76_1438+78del	XP_011536832.1:n.1438+76_1438+78del
XM_011538531.1:c.1348+76_1348+78del	XP_011536833.1:n.1348+76_1348+78del
XM_011538532.1:c.1348+76_1348+78del	XP_011536834.1:n.1348+76_1348+78del
XM_011538530.3:c.1438+76_1438+78del	XP_011536832.1:n.1438+76_1438+78del
XM_011538531.3:c.1348+76_1348+78del	XP_011536833.1:n.1348+76_1348+78del
XM_011538532.3:c.1348+76_1348+78del	XP_011536834.1:n.1348+76_1348+78del
XM_017019551.2:c.1420+76_1420+78del	XP_016875040.1:n.1420+76_1420+78del
XM_017019552.2:c.1330+76_1330+78del	XP_016875041.1:n.1330+76_1330+78del
XM_017019553.2:c.1330+76_1330+78del	XP_016875042.1:n.1330+76_1330+78del
XM_017019554.1:c.1459+76_1459+78del	XP_016875043.1:n.1459+76_1459+78del
XR_001748795.1:n.1639+76_1639+78del
XR_001748796.1:n.1621+76_1621+78del
NM_018171.4:c.1459+76_1459+78del	NP_060641.2:n.1459+76_1459+78del
NM_018171.5:c.1459+76_1459+78del MANE Select	NP_060641.2:n.1459+76_1459+78del
NM_001251904.2:c.1477+76_1477+78del	NP_001238833.1:n.1477+76_1477+78del
NM_001251905.2:c.1330+76_1330+78del	NP_001238834.1:n.1330+76_1330+78del