Canonical Allele Identifier: CA943538414

Gene: APLP2

Linked Data

• dbSNP Id: rs1948162440
• gnomAD v3: 11-130108896-G-GTAGGGACCTGGATGATGC
• gnomAD v4: 11-130108896-G-GTAGGGACCTGGATGATGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130108911_130108912insTGCTAGGGACCTGGATGA , CM000673.2:g.130108911_130108912insTGCTAGGGACCTGGATGA	GRCh38
NC_000011.9:g.129978806_129978807insTGCTAGGGACCTGGATGA , CM000673.1:g.129978806_129978807insTGCTAGGGACCTGGATGA	GRCh37
NC_000011.8:g.129484016_129484017insTGCTAGGGACCTGGATGA	NCBI36
NG_029770.1:g.44091_44092insTGCTAGGGACCTGGATGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338167.10:c.106-518_106-517insTGCTAGGGACCTGGATGA MANE Select	ENSP00000345444.5:n.106-518_106-517insTGCTAGGGACCTGGATGA
ENST00000650012.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	ENSP00000497691.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
ENST00000263574.9:c.106-518_106-517insTGCTAGGGACCTGGATGA	ENSP00000263574.5:n.106-518_106-517insTGCTAGGGACCTGGATGA
ENST00000278756.7:c.136-518_136-517insTGCTAGGGACCTGGATGA	ENSP00000278756.7:n.136-518_136-517insTGCTAGGGACCTGGATGA
ENST00000338167.9:c.106-518_106-517insTGCTAGGGACCTGGATGA	ENSP00000345444.5:n.106-518_106-517insTGCTAGGGACCTGGATGA
ENST00000345598.9:c.106-518_106-517insTGCTAGGGACCTGGATGA	ENSP00000263575.6:n.106-518_106-517insTGCTAGGGACCTGGATGA
ENST00000461918.2:n.307_308insTGCTAGGGACCTGGATGA
ENST00000526330.5:n.190-518_190-517insTGCTAGGGACCTGGATGA
ENST00000527702.5:n.190-1627_190-1626insTGCTAGGGACCTGGATGA
ENST00000528499.5:c.106-518_106-517insTGCTAGGGACCTGGATGA	ENSP00000435914.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
ENST00000529235.5:n.122-518_122-517insTGCTAGGGACCTGGATGA
ENST00000529701.1:n.190-518_190-517insTGCTAGGGACCTGGATGA
ENST00000530132.5:c.*154-518_*154-517insTGCTAGGGACCTGGATGA	ENSP00000433582.1:n.*154-518_*154-517insTGCTAGGGACCTGGATGA
ENST00000532456.5:n.391-518_391-517insTGCTAGGGACCTGGATGA
ENST00000533195.5:c.181-518_181-517insTGCTAGGGACCTGGATGA	ENSP00000434059.1:n.181-518_181-517insTGCTAGGGACCTGGATGA
ENST00000533532.5:n.190-518_190-517insTGCTAGGGACCTGGATGA
ENST00000533616.5:c.106-11795_106-11794insTGCTAGGGACCTGGATGA	ENSP00000434592.1:n.106-11795_106-11794insTGCTAGGGACCTGGATGA
ENST00000533618.5:n.190-518_190-517insTGCTAGGGACCTGGATGA
ENST00000533713.5:c.61-518_61-517insTGCTAGGGACCTGGATGA	ENSP00000434379.1:n.61-518_61-517insTGCTAGGGACCTGGATGA
ENST00000534001.1:n.126-639_126-638insTGCTAGGGACCTGGATGA
ENST00000534582.5:c.106-518_106-517insTGCTAGGGACCTGGATGA	ENSP00000435470.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
ENST00000534761.5:n.193-518_193-517insTGCTAGGGACCTGGATGA
NM_001142276.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001135748.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001142277.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001135749.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001142278.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001135750.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001243299.1:c.136-518_136-517insTGCTAGGGACCTGGATGA	NP_001230228.1:n.136-518_136-517insTGCTAGGGACCTGGATGA
NM_001642.2:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001633.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NR_024515.1:n.263-518_263-517insTGCTAGGGACCTGGATGA
NR_024516.1:n.263-11795_263-11794insTGCTAGGGACCTGGATGA
NM_001328682.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001315611.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001328684.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001315613.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001328685.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001315614.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001328686.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001315615.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001142276.2:c.106-518_106-517insTGCTAGGGACCTGGATGA MANE Select	NP_001135748.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001142277.2:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001135749.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001142278.2:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001135750.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001328682.2:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001315611.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001328684.2:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001315613.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001328685.2:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001315614.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001328686.2:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001315615.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001642.3:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001633.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NR_024515.2:n.190-518_190-517insTGCTAGGGACCTGGATGA
NR_024516.2:n.190-11795_190-11794insTGCTAGGGACCTGGATGA
NM_001243299.2:c.136-518_136-517insTGCTAGGGACCTGGATGA	NP_001230228.1:n.136-518_136-517insTGCTAGGGACCTGGATGA
NM_001382526.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369455.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001382527.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369456.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001382528.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369457.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001382529.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369458.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001382530.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369459.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001382531.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369460.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001382532.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369461.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001382533.1:c.106-1627_106-1626insTGCTAGGGACCTGGATGA	NP_001369462.1:n.106-1627_106-1626insTGCTAGGGACCTGGATGA
NM_001382534.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369463.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001382535.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369464.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001382536.1:c.106-1627_106-1626insTGCTAGGGACCTGGATGA	NP_001369465.1:n.106-1627_106-1626insTGCTAGGGACCTGGATGA
NM_001382537.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369466.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001382538.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369467.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001382539.1:c.106-1627_106-1626insTGCTAGGGACCTGGATGA	NP_001369468.1:n.106-1627_106-1626insTGCTAGGGACCTGGATGA
NM_001382540.1:c.106-1627_106-1626insTGCTAGGGACCTGGATGA	NP_001369469.1:n.106-1627_106-1626insTGCTAGGGACCTGGATGA
NM_001382541.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369470.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001382542.1:c.-65-11795_-65-11794insTGCTAGGGACCTGGATGA	NP_001369471.1:n.-65-11795_-65-11794insTGCTAGGGACCTGGATGA
NM_001382543.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369472.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001382544.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369473.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001382545.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369474.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NM_001382546.1:c.106-518_106-517insTGCTAGGGACCTGGATGA	NP_001369475.1:n.106-518_106-517insTGCTAGGGACCTGGATGA
NR_168388.1:n.190-518_190-517insTGCTAGGGACCTGGATGA
NR_168389.1:n.190-11795_190-11794insTGCTAGGGACCTGGATGA
NR_168390.1:n.190-11795_190-11794insTGCTAGGGACCTGGATGA
NR_168391.1:n.190-518_190-517insTGCTAGGGACCTGGATGA
NR_168392.1:n.190-518_190-517insTGCTAGGGACCTGGATGA
NR_168393.1:n.190-518_190-517insTGCTAGGGACCTGGATGA
NR_168394.1:n.190-518_190-517insTGCTAGGGACCTGGATGA