Canonical Allele Identifier: CA915949198
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 819816
dbSNP Id: rs1597091518

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630470del , CM000678.2:g.23630470del GRCh38
NC_000016.9:g.23641791del , CM000678.1:g.23641791del GRCh37
NC_000016.8:g.23549292del NCBI36
NG_007406.1:g.15890del , LRG_308:g.15890del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1692del
ENST00000565038.2:c.212-1193del ENSP00000459882.2:n.212-1193del
ENST00000566069.6:c.1686del
ENST00000697377.2:c.1692del
ENST00000697379.2:c.1692del
ENST00000561514.2:c.801del
ENST00000697374.1:c.801del
ENST00000697375.1:n.3033del
ENST00000697376.1:c.801del
ENST00000697377.1:c.801del
ENST00000697378.1:n.2206del
ENST00000697379.1:c.801del
ENST00000697380.1:n.614del
ENST00000697381.1:n.381del
ENST00000697382.1:c.801del
ENST00000697383.1:c.49-1193del ENSP00000513289.1:n.49-1193del
ENST00000697384.1:n.1840del
ENST00000261584.9:c.1686del
ENST00000261584.8:c.1686del
ENST00000565038.1:c.87-1193del
ENST00000568219.5:c.801del
NM_024675.3:c.1686del , LRG_308t1:c.1686del
XM_011545946.1:c.1692del
XM_011545947.1:c.1692del
XM_011545948.1:c.801del
XR_950851.1:n.2482del
XM_011545946.2:c.1692del
XM_011545947.2:c.1692del
XM_011545948.2:c.801del
XM_017023671.1:c.1692del
XM_017023672.2:c.1686del
XM_017023673.2:c.1686del
NM_024675.4:c.1686del