Canonical Allele Identifier: CA16042150
Gene: PALB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371976
ClinVar RCV Id: RCV000411169
dbSNP Id: rs1057517602

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630316del , CM000678.2:g.23630316del GRCh38
NC_000016.9:g.23641637del , CM000678.1:g.23641637del GRCh37
NC_000016.8:g.23549138del NCBI36
NG_007406.1:g.16042del , LRG_308:g.16042del

Transcript Alleles

HGVS Amino-acid change
NM_024675.3:c.1838del , LRG_308t1:c.1838del NP_078951.2:p.Gln613ArgfsTer15
XM_011545946.1:c.1844del XP_011544248.1:p.Gln615ArgfsTer15
XM_011545947.1:c.1844del XP_011544249.1:p.Gln615ArgfsTer15
XM_011545948.1:c.953del XP_011544250.1:p.Gln318ArgfsTer15
XR_950851.1:n.2634del
XM_011545946.2:c.1844del
XM_011545947.2:c.1844del
XM_011545948.2:c.953del
XM_017023671.1:c.1844del XP_016879160.1:p.Gln615ArgfsTer15
XM_017023672.2:c.1838del XP_016879161.1:p.Gln613ArgfsTer15
XM_017023673.2:c.1838del XP_016879162.1:p.Gln613ArgfsTer15
ENST00000261584.8:c.1838del ENSP00000261584.4:p.Gln613ArgfsTer15
ENST00000565038.1:n.87-1041del
ENST00000568219.5:c.953del ENSP00000454703.2:p.Gln318ArgfsTer15