Canonical Allele Identifier: CA2573152150

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1455890
• ClinVar RCV Id: RCV001946732
• dbSNP Id: rs2142272095

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607913_23607914insCGTCTGAG , CM000678.2:g.23607913_23607914insCGTCTGAG	GRCh38
NC_000016.9:g.23619234_23619235insCGTCTGAG , CM000678.1:g.23619234_23619235insCGTCTGAG	GRCh37
NC_000016.8:g.23526735_23526736insCGTCTGAG	NCBI36
NG_007406.1:g.38449_38450insACGCTCAG , LRG_308:g.38449_38450insACGCTCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3311_3312insACGCTCAG	ENSP00000460666.3:p.Ser1104ArgfsTer7
ENST00000565038.2:c.*786_*787insACGCTCAG	ENSP00000459882.2:n.*786_*787insACGCTCAG
ENST00000566069.6:c.3202-4240_3202-4239insACGCTCAG	ENSP00000459237.2:n.3202-4240_3202-4239in...
ENST00000697377.2:c.3149_3150insACGCTCAG	ENSP00000513286.2:p.Ser1050ArgfsTer7
ENST00000697379.2:c.3311_3312insACGCTCAG	ENSP00000513287.2:p.Ser1104ArgfsTer7
ENST00000561514.2:c.2420_2421insACGCTCAG	ENSP00000460666.2:p.Ser807ArgfsTer7
ENST00000697374.1:c.2420_2421insACGCTCAG	ENSP00000513284.1:p.Ser807ArgfsTer7
ENST00000697375.1:n.4652_4653insACGCTCAG
ENST00000697376.1:c.2317-4240_2317-4239insACGCTCAG	ENSP00000513285.1:n.2317-4240_2317-4239in...
ENST00000697377.1:c.2258_2259insACGCTCAG	ENSP00000513286.1:p.Ser753ArgfsTer7
ENST00000697378.1:n.3825_3826insACGCTCAG
ENST00000697379.1:c.2420_2421insACGCTCAG	ENSP00000513287.1:p.Ser807ArgfsTer7
ENST00000697380.1:n.2509_2510insACGCTCAG
ENST00000697381.1:n.2000_2001insACGCTCAG
ENST00000697382.1:c.*82_*83insACGCTCAG	ENSP00000513288.1:n.*82_*83insACGCTCAG
ENST00000697383.1:c.839_840insACGCTCAG	ENSP00000513289.1:p.Ser280ArgfsTer7
ENST00000261584.9:c.3305_3306insACGCTCAG MANE Select	ENSP00000261584.4:p.Ser1102ArgfsTer7
ENST00000261584.8:c.3305_3306insACGCTCAG	ENSP00000261584.4:p.Ser1102ArgfsTer7
ENST00000566069.5:c.117-4240_117-4239insACGCTCAG
ENST00000568219.5:c.2420_2421insACGCTCAG	ENSP00000454703.2:p.Ser807ArgfsTer7
NM_024675.3:c.3305_3306insACGCTCAG , LRG_308t1:c.3305_3306insACGCTCAG	NP_078951.2:p.Ser1102ArgfsTer7
XM_011545946.1:c.3311_3312insACGCTCAG	XP_011544248.1:p.Ser1104ArgfsTer7
XM_011545947.1:c.3208-4240_3208-4239insACGCTCAG	XP_011544249.1:n.3208-4240_3208-4239insAC...
XM_011545948.1:c.2420_2421insACGCTCAG	XP_011544250.1:p.Ser807ArgfsTer7
XR_950851.1:n.4013_4014insACGCTCAG
XM_011545946.2:c.3311_3312insACGCTCAG	XP_011544248.1:p.Ser1104ArgfsTer7
XM_011545947.2:c.3208-4240_3208-4239insACGCTCAG	XP_011544249.1:n.3208-4240_3208-4239insAC...
XM_011545948.2:c.2420_2421insACGCTCAG	XP_011544250.1:p.Ser807ArgfsTer7
XM_017023671.1:c.3120-4240_3120-4239insACGCTCAG	XP_016879160.1:n.3120-4240_3120-4239insAC...
XM_017023672.2:c.3114-4240_3114-4239insACGCTCAG	XP_016879161.1:n.3114-4240_3114-4239insAC...
XM_017023673.2:c.3202-4240_3202-4239insACGCTCAG	XP_016879162.1:n.3202-4240_3202-4239insAC...
NM_024675.4:c.3305_3306insACGCTCAG MANE Select	NP_078951.2:p.Ser1102ArgfsTer7