Canonical Allele Identifier: CA916081806
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 830194
ClinVar RCV Id: RCV001030384

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23613814_23617603del , CM000678.2:g.23613814_23617603del GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3120-3511_3207+191del
ENST00000565038.2:c.*595-3511_*682+191del
ENST00000566069.6:c.3114-3511_3201+191del
ENST00000697377.2:c.2958-3511_3045+191del
ENST00000697379.2:c.3120-3511_3207+191del
ENST00000561514.2:c.2229-3511_2316+191del
ENST00000697374.1:c.2229-3511_2316+191del
ENST00000697375.1:n.4461-3511_4548+191del
ENST00000697376.1:c.2229-3511_2316+191del
ENST00000697377.1:c.2067-3511_2154+191del
ENST00000697378.1:n.3634-3511_3721+191del
ENST00000697379.1:c.2229-3511_2316+191del
ENST00000697380.1:n.2405+3760_2406-5801del
ENST00000697381.1:n.1809-3511_1896+191del
ENST00000697382.1:c.2228+3760_2229-5801del ENSP00000513288.1:n.2228+3760_2229-5801del
ENST00000697383.1:c.648-3511_735+191del
ENST00000261584.9:c.3114-3511_3201+191del
ENST00000261584.8:c.3114-3511_3201+191del
ENST00000566069.5:c.29-3511_116+191del
ENST00000568219.5:c.2229-3511_2316+191del
NM_024675.3:c.3114-3511_3201+191del , LRG_308t1:c.3114-3511_3201+191del
XM_011545946.1:c.3120-3511_3207+191del
XM_011545947.1:c.3120-3511_3207+191del
XM_011545948.1:c.2229-3511_2316+191del
XR_950851.1:n.3909+3760_3910-5801del
XM_011545946.2:c.3120-3511_3207+191del
XM_011545947.2:c.3120-3511_3207+191del
XM_011545948.2:c.2229-3511_2316+191del
XM_017023671.1:c.3119+3760_3119+7549del XP_016879160.1:n.3119+3760_3119+7549del
XM_017023672.2:c.3113+3760_3113+7549del XP_016879161.1:n.3113+3760_3113+7549del
XM_017023673.2:c.3114-3511_3201+191del
NM_024675.4:c.3114-3511_3201+191del