Canonical Allele Identifier: CA2580091252

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1796368
• ClinVar RCV Id: RCV003455495 ; RCV002441742

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624027_23624034del , CM000678.2:g.23624027_23624034del	GRCh38
NC_000016.9:g.23635348_23635355del , CM000678.1:g.23635348_23635355del	GRCh37
NC_000016.8:g.23542849_23542856del	NCBI36
NG_007406.1:g.22330_22337del , LRG_308:g.22330_22337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2821_2828del	ENSP00000460666.3:p.Leu941GlnfsTer11
ENST00000565038.2:c.*296_*303del	ENSP00000459882.2:n.*296_*303del
ENST00000566069.6:c.2815_2822del	ENSP00000459237.2:p.Leu939GlnfsTer11
ENST00000697377.2:c.2659_2666del	ENSP00000513286.2:p.Leu887GlnfsTer11
ENST00000697379.2:c.2821_2828del	ENSP00000513287.2:p.Leu941GlnfsTer11
ENST00000561514.2:c.1930_1937del	ENSP00000460666.2:p.Leu644GlnfsTer11
ENST00000697374.1:c.1930_1937del	ENSP00000513284.1:p.Leu644GlnfsTer11
ENST00000697375.1:n.4162_4169del
ENST00000697376.1:c.1930_1937del	ENSP00000513285.1:p.Leu644GlnfsTer11
ENST00000697377.1:c.1768_1775del	ENSP00000513286.1:p.Leu590GlnfsTer11
ENST00000697378.1:n.3335_3342del
ENST00000697379.1:c.1930_1937del	ENSP00000513287.1:p.Leu644GlnfsTer11
ENST00000697380.1:n.2107_2114del
ENST00000697381.1:n.1510_1517del
ENST00000697382.1:c.1930_1937del	ENSP00000513288.1:p.Leu644GlnfsTer11
ENST00000697383.1:c.349_356del	ENSP00000513289.1:p.Leu117GlnfsTer11
ENST00000261584.9:c.2815_2822del MANE Select	ENSP00000261584.4:p.Leu939GlnfsTer11
ENST00000261584.8:c.2815_2822del	ENSP00000261584.4:p.Leu939GlnfsTer11
ENST00000568219.5:c.1930_1937del	ENSP00000454703.2:p.Leu644GlnfsTer11
NM_024675.3:c.2815_2822del , LRG_308t1:c.2815_2822del	NP_078951.2:p.Leu939GlnfsTer11
XM_011545946.1:c.2821_2828del	XP_011544248.1:p.Leu941GlnfsTer11
XM_011545947.1:c.2821_2828del	XP_011544249.1:p.Leu941GlnfsTer11
XM_011545948.1:c.1930_1937del	XP_011544250.1:p.Leu644GlnfsTer11
XR_950851.1:n.3611_3618del
XM_011545946.2:c.2821_2828del	XP_011544248.1:p.Leu941GlnfsTer11
XM_011545947.2:c.2821_2828del	XP_011544249.1:p.Leu941GlnfsTer11
XM_011545948.2:c.1930_1937del	XP_011544250.1:p.Leu644GlnfsTer11
XM_017023671.1:c.2821_2828del	XP_016879160.1:p.Leu941GlnfsTer11
XM_017023672.2:c.2815_2822del	XP_016879161.1:p.Leu939GlnfsTer11
XM_017023673.2:c.2815_2822del	XP_016879162.1:p.Leu939GlnfsTer11
NM_024675.4:c.2815_2822del MANE Select	NP_078951.2:p.Leu939GlnfsTer11