Canonical Allele Identifier: CA2580613447

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1696821
• ClinVar RCV Id: RCV002267180
• dbSNP Id: rs2142271759

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607902_23607903del , CM000678.2:g.23607902_23607903del	GRCh38
NC_000016.9:g.23619223_23619224del , CM000678.1:g.23619223_23619224del	GRCh37
NC_000016.8:g.23526724_23526725del	NCBI36
NG_007406.1:g.38458_38459del , LRG_308:g.38458_38459del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3320_3321del	ENSP00000460666.3:p.Val1107AspfsTer17
ENST00000565038.2:c.*795_*796del	ENSP00000459882.2:n.*795_*796del
ENST00000566069.6:c.3202-4231_3202-4230del	ENSP00000459237.2:n.3202-4231_3202-4230de...
ENST00000697377.2:c.3158_3159del	ENSP00000513286.2:p.Val1053AspfsTer17
ENST00000697379.2:c.3320_3321del	ENSP00000513287.2:p.Val1107AspfsTer17
ENST00000561514.2:c.2429_2430del	ENSP00000460666.2:p.Val810AspfsTer17
ENST00000697374.1:c.2429_2430del	ENSP00000513284.1:p.Val810AspfsTer17
ENST00000697375.1:n.4661_4662del
ENST00000697376.1:c.2317-4231_2317-4230del	ENSP00000513285.1:n.2317-4231_2317-4230de...
ENST00000697377.1:c.2267_2268del	ENSP00000513286.1:p.Val756AspfsTer17
ENST00000697378.1:n.3834_3835del
ENST00000697379.1:c.2429_2430del	ENSP00000513287.1:p.Val810AspfsTer17
ENST00000697380.1:n.2518_2519del
ENST00000697381.1:n.2009_2010del
ENST00000697382.1:c.*91_*92del	ENSP00000513288.1:n.*91_*92del
ENST00000697383.1:c.848_849del	ENSP00000513289.1:p.Val283AspfsTer17
ENST00000261584.9:c.3314_3315del MANE Select	ENSP00000261584.4:p.Val1105AspfsTer17
ENST00000261584.8:c.3314_3315del	ENSP00000261584.4:p.Val1105AspfsTer17
ENST00000566069.5:c.117-4231_117-4230del
ENST00000568219.5:c.2429_2430del	ENSP00000454703.2:p.Val810AspfsTer17
NM_024675.3:c.3314_3315del , LRG_308t1:c.3314_3315del	NP_078951.2:p.Val1105AspfsTer17
XM_011545946.1:c.3320_3321del	XP_011544248.1:p.Val1107AspfsTer17
XM_011545947.1:c.3208-4231_3208-4230del	XP_011544249.1:n.3208-4231_3208-4230del
XM_011545948.1:c.2429_2430del	XP_011544250.1:p.Val810AspfsTer17
XR_950851.1:n.4022_4023del
XM_011545946.2:c.3320_3321del	XP_011544248.1:p.Val1107AspfsTer17
XM_011545947.2:c.3208-4231_3208-4230del	XP_011544249.1:n.3208-4231_3208-4230del
XM_011545948.2:c.2429_2430del	XP_011544250.1:p.Val810AspfsTer17
XM_017023671.1:c.3120-4231_3120-4230del	XP_016879160.1:n.3120-4231_3120-4230del
XM_017023672.2:c.3114-4231_3114-4230del	XP_016879161.1:n.3114-4231_3114-4230del
XM_017023673.2:c.3202-4231_3202-4230del	XP_016879162.1:n.3202-4231_3202-4230del
NM_024675.4:c.3314_3315del MANE Select	NP_078951.2:p.Val1105AspfsTer17