Canonical Allele Identifier: CA2580091247

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1728819
• ClinVar RCV Id: RCV002443356

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614004del , CM000678.2:g.23614004del	GRCh38
NC_000016.9:g.23625325del , CM000678.1:g.23625325del	GRCh37
NC_000016.8:g.23532826del	NCBI36
NG_007406.1:g.32355del , LRG_308:g.32355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3207+1del
ENST00000565038.2:c.*682+1del
ENST00000566069.6:c.3201+1del
ENST00000697377.2:c.3045+1del
ENST00000697379.2:c.3207+1del
ENST00000561514.2:c.2316+1del
ENST00000697374.1:c.2316+1del
ENST00000697375.1:n.4548+1del
ENST00000697376.1:c.2316+1del
ENST00000697377.1:c.2154+1del
ENST00000697378.1:n.3721+1del
ENST00000697379.1:c.2316+1del
ENST00000697380.1:n.2406-5991del
ENST00000697381.1:n.1896+1del
ENST00000697382.1:c.2229-5991del	ENSP00000513288.1:n.2229-5991del
ENST00000697383.1:c.735+1del
ENST00000261584.9:c.3201+1del
ENST00000261584.8:c.3201+1del
ENST00000566069.5:c.116+1del
ENST00000568219.5:c.2316+1del
NM_024675.3:c.3201+1del , LRG_308t1:c.3201+1del
XM_011545946.1:c.3207+1del
XM_011545947.1:c.3207+1del
XM_011545948.1:c.2316+1del
XR_950851.1:n.3910-5991del
XM_011545946.2:c.3207+1del
XM_011545947.2:c.3207+1del
XM_011545948.2:c.2316+1del
XM_017023671.1:c.3119+7359del	XP_016879160.1:n.3119+7359del
XM_017023672.2:c.3113+7359del	XP_016879161.1:n.3113+7359del
XM_017023673.2:c.3201+1del
NM_024675.4:c.3201+1del