Canonical Allele Identifier: CA913188703

Gene: PALB2

Linked Data

• ClinVar Variation Id: 927179
• ClinVar RCV Id: RCV001190295 ; RCV001241932
• dbSNP Id: rs1966506715

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607904_23607919delinsACCACG , CM000678.2:g.23607904_23607919delinsACCACG	GRCh38
NC_000016.9:g.23619225_23619240delinsACCACG , CM000678.1:g.23619225_23619240delinsACCACG	GRCh37
NC_000016.8:g.23526726_23526741delinsACCACG	NCBI36
NG_007406.1:g.38439_38454delinsCGTGGT , LRG_308:g.38439_38454delinsCGTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3301_3316delinsCGTGGT	ENSP00000460666.3:p.Thr1101ArgfsTer4
ENST00000565038.2:c.*776_*791delinsCGTGGT	ENSP00000459882.2:n.*776_*791delinsCGTGGT
ENST00000566069.6:c.3202-4250_3202-4235delinsCGTGGT	ENSP00000459237.2:n.3202-4250_3202-4235delinsCGTGGT
ENST00000697377.2:c.3139_3154delinsCGTGGT	ENSP00000513286.2:p.Thr1047ArgfsTer4
ENST00000697379.2:c.3301_3316delinsCGTGGT	ENSP00000513287.2:p.Thr1101ArgfsTer4
ENST00000561514.2:c.2410_2425delinsCGTGGT	ENSP00000460666.2:p.Thr804ArgfsTer4
ENST00000697374.1:c.2410_2425delinsCGTGGT	ENSP00000513284.1:p.Thr804ArgfsTer4
ENST00000697375.1:n.4642_4657delinsCGTGGT
ENST00000697376.1:c.2317-4250_2317-4235delinsCGTGGT	ENSP00000513285.1:n.2317-4250_2317-4235delinsCGTGGT
ENST00000697377.1:c.2248_2263delinsCGTGGT	ENSP00000513286.1:p.Thr750ArgfsTer4
ENST00000697378.1:n.3815_3830delinsCGTGGT
ENST00000697379.1:c.2410_2425delinsCGTGGT	ENSP00000513287.1:p.Thr804ArgfsTer4
ENST00000697380.1:n.2499_2514delinsCGTGGT
ENST00000697381.1:n.1990_2005delinsCGTGGT
ENST00000697382.1:c.*72_*87delinsCGTGGT	ENSP00000513288.1:n.*72_*87delinsCGTGGT
ENST00000697383.1:c.829_844delinsCGTGGT	ENSP00000513289.1:p.Thr277ArgfsTer4
ENST00000261584.9:c.3295_3310delinsCGTGGT MANE Select	ENSP00000261584.4:p.Thr1099ArgfsTer4
ENST00000261584.8:c.3295_3310delinsCGTGGT	ENSP00000261584.4:p.Thr1099ArgfsTer4
ENST00000566069.5:c.117-4250_117-4235delinsCGTGGT
ENST00000568219.5:c.2410_2425delinsCGTGGT	ENSP00000454703.2:p.Thr804ArgfsTer4
NM_024675.3:c.3295_3310delinsCGTGGT , LRG_308t1:c.3295_3310delinsCGTGGT	NP_078951.2:p.Thr1099ArgfsTer4
XM_011545946.1:c.3301_3316delinsCGTGGT	XP_011544248.1:p.Thr1101ArgfsTer4
XM_011545947.1:c.3208-4250_3208-4235delinsCGTGGT	XP_011544249.1:n.3208-4250_3208-4235delinsCGTGGT
XM_011545948.1:c.2410_2425delinsCGTGGT	XP_011544250.1:p.Thr804ArgfsTer4
XR_950851.1:n.4003_4018delinsCGTGGT
XM_011545946.2:c.3301_3316delinsCGTGGT	XP_011544248.1:p.Thr1101ArgfsTer4
XM_011545947.2:c.3208-4250_3208-4235delinsCGTGGT	XP_011544249.1:n.3208-4250_3208-4235delinsCGTGGT
XM_011545948.2:c.2410_2425delinsCGTGGT	XP_011544250.1:p.Thr804ArgfsTer4
XM_017023671.1:c.3120-4250_3120-4235delinsCGTGGT	XP_016879160.1:n.3120-4250_3120-4235delinsCGTGGT
XM_017023672.2:c.3114-4250_3114-4235delinsCGTGGT	XP_016879161.1:n.3114-4250_3114-4235delinsCGTGGT
XM_017023673.2:c.3202-4250_3202-4235delinsCGTGGT	XP_016879162.1:n.3202-4250_3202-4235delinsCGTGGT
NM_024675.4:c.3295_3310delinsCGTGGT MANE Select	NP_078951.2:p.Thr1099ArgfsTer4