Canonical Allele Identifier: CA2620630027

Gene: APPL2

Linked Data

• gnomAD v4: 12-105189770-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.105189772dup , CM000674.2:g.105189772dup	GRCh38
NC_000012.11:g.105583550dup , CM000674.1:g.105583550dup	GRCh37
NC_000012.10:g.104107680dup	NCBI36
NG_030419.1:g.51460dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258530.8:c.1459+1dup
ENST00000258530.7:c.1459+1dup
ENST00000539978.6:c.1330+1dup
ENST00000547439.5:c.*744+1dup
ENST00000547809.5:n.1469+1dup
ENST00000551662.5:c.1477+1dup
ENST00000552945.1:n.299+1dup
ENST00000553109.1:c.103+1dup
NM_001251904.1:c.1477+1dup
NM_001251905.1:c.1330+1dup
NM_018171.3:c.1459+1dup
XM_006719472.1:c.1477+1dup
XM_011538530.1:c.1438+1dup
XM_011538531.1:c.1348+1dup
XM_011538532.1:c.1348+1dup
XM_011538530.3:c.1438+1dup
XM_011538531.3:c.1348+1dup
XM_011538532.3:c.1348+1dup
XM_017019551.2:c.1420+1dup
XM_017019552.2:c.1330+1dup
XM_017019553.2:c.1330+1dup
XM_017019554.1:c.1459+1dup
XR_001748795.1:n.1639+1dup
XR_001748796.1:n.1621+1dup
NM_018171.4:c.1459+1dup
NM_018171.5:c.1459+1dup
NM_001251904.2:c.1477+1dup
NM_001251905.2:c.1330+1dup