Canonical Allele Identifier: CA2695197457
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2673829
ClinVar RCV Id: RCV003450446

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629632_23629646del , CM000678.2:g.23629632_23629646del GRCh38
NC_000016.9:g.23640953_23640967del , CM000678.1:g.23640953_23640967del GRCh37
NC_000016.8:g.23548454_23548468del NCBI36
NG_007406.1:g.16713_16727del , LRG_308:g.16713_16727del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2515_2520+9del
ENST00000565038.2:c.212-370_212-356del ENSP00000459882.2:n.212-370_212-356del
ENST00000566069.6:c.2509_2514+9del
ENST00000697377.2:c.2515_2520+9del
ENST00000697379.2:c.2515_2520+9del
ENST00000561514.2:c.1624_1629+9del
ENST00000697374.1:c.1624_1629+9del
ENST00000697375.1:n.3856_3861+9del
ENST00000697376.1:c.1624_1629+9del
ENST00000697377.1:c.1624_1629+9del
ENST00000697378.1:n.3029_3034+9del
ENST00000697379.1:c.1624_1629+9del
ENST00000697380.1:n.1437_1451del
ENST00000697381.1:n.1204_1209+9del
ENST00000697382.1:c.1624_1629+9del
ENST00000697383.1:c.49-370_49-356del ENSP00000513289.1:n.49-370_49-356del
ENST00000697384.1:n.2663_2668+9del
ENST00000261584.9:c.2509_2514+9del
ENST00000261584.8:c.2509_2514+9del
ENST00000565038.1:c.87-370_87-356del
ENST00000568219.5:c.1624_1629+9del
NM_024675.3:c.2509_2514+9del , LRG_308t1:c.2509_2514+9del
XM_011545946.1:c.2515_2520+9del
XM_011545947.1:c.2515_2520+9del
XM_011545948.1:c.1624_1629+9del
XR_950851.1:n.3305_3310+9del
XM_011545946.2:c.2515_2520+9del
XM_011545947.2:c.2515_2520+9del
XM_011545948.2:c.1624_1629+9del
XM_017023671.1:c.2515_2520+9del
XM_017023672.2:c.2509_2514+9del
XM_017023673.2:c.2509_2514+9del
NM_024675.4:c.2509_2514+9del