Canonical Allele Identifier: CA2592972569

Gene: PALB2

Linked Data

• gnomAD v3: 16-23635490-C-CTCTGTTTGA
• gnomAD v4: 16-23635490-C-CTCTGTTTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635492_23635500dup , CM000678.2:g.23635492_23635500dup	GRCh38
NC_000016.9:g.23646813_23646821dup , CM000678.1:g.23646813_23646821dup	GRCh37
NC_000016.8:g.23554314_23554322dup	NCBI36
NG_007406.1:g.10859_10867dup , LRG_308:g.10859_10867dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1053_1061dup	ENSP00000460666.3:p.Thr353_Glu354insAspGlnThr
ENST00000565038.2:c.211+2351_211+2359dup	ENSP00000459882.2:n.211+2351_211+2359dup
ENST00000566069.6:c.1047_1055dup	ENSP00000459237.2:p.Thr351_Glu352insAspGlnThr
ENST00000697377.2:c.1053_1061dup	ENSP00000513286.2:p.Thr353_Glu354insAspGlnThr
ENST00000697379.2:c.1053_1061dup	ENSP00000513287.2:p.Thr353_Glu354insAspGlnThr
ENST00000561514.2:c.162_170dup	ENSP00000460666.2:p.Thr56_Glu57insAspGlnThr
ENST00000697374.1:c.162_170dup	ENSP00000513284.1:p.Thr56_Glu57insAspGlnThr
ENST00000697375.1:n.2394_2402dup
ENST00000697376.1:c.162_170dup	ENSP00000513285.1:p.Thr56_Glu57insAspGlnThr
ENST00000697377.1:c.162_170dup	ENSP00000513286.1:p.Thr56_Glu57insAspGlnThr
ENST00000697378.1:n.1567_1575dup
ENST00000697379.1:c.162_170dup	ENSP00000513287.1:p.Thr56_Glu57insAspGlnThr
ENST00000697382.1:c.162_170dup	ENSP00000513288.1:p.Thr56_Glu57insAspGlnThr
ENST00000697383.1:c.48+5611_48+5619dup	ENSP00000513289.1:n.48+5611_48+5619dup
ENST00000697384.1:n.1201_1209dup
ENST00000261584.9:c.1047_1055dup MANE Select	ENSP00000261584.4:p.Thr351_Glu352insAspGlnThr
ENST00000261584.8:c.1047_1055dup	ENSP00000261584.4:p.Thr351_Glu352insAspGlnThr
ENST00000565038.1:c.86+2351_86+2359dup
ENST00000568219.5:c.162_170dup	ENSP00000454703.2:p.Thr56_Glu57insAspGlnThr
NM_024675.3:c.1047_1055dup , LRG_308t1:c.1047_1055dup	NP_078951.2:p.Thr351_Glu352insAspGlnThr
XM_011545946.1:c.1053_1061dup	XP_011544248.1:p.Thr353_Glu354insAspGlnThr
XM_011545947.1:c.1053_1061dup	XP_011544249.1:p.Thr353_Glu354insAspGlnThr
XM_011545948.1:c.162_170dup	XP_011544250.1:p.Thr56_Glu57insAspGlnThr
XR_950851.1:n.1843_1851dup
XM_011545946.2:c.1053_1061dup	XP_011544248.1:p.Thr353_Glu354insAspGlnThr
XM_011545947.2:c.1053_1061dup	XP_011544249.1:p.Thr353_Glu354insAspGlnThr
XM_011545948.2:c.162_170dup	XP_011544250.1:p.Thr56_Glu57insAspGlnThr
XM_017023671.1:c.1053_1061dup	XP_016879160.1:p.Thr353_Glu354insAspGlnThr
XM_017023672.2:c.1047_1055dup	XP_016879161.1:p.Thr351_Glu352insAspGlnThr
XM_017023673.2:c.1047_1055dup	XP_016879162.1:p.Thr351_Glu352insAspGlnThr
NM_024675.4:c.1047_1055dup MANE Select	NP_078951.2:p.Thr351_Glu352insAspGlnThr