Canonical Allele Identifier: CA151245
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 126715
dbSNP Id: rs180177133

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23614090del , CM000678.2:g.23614090del GRCh38
NC_000016.9:g.23625411del , CM000678.1:g.23625411del GRCh37
NC_000016.8:g.23532912del NCBI36
NG_007406.1:g.32269del , LRG_308:g.32269del

Transcript Alleles

HGVS Amino-acid change
ENST00000261584.9:c.3116del MANE Select ENSP00000261584.4:p.Asn1039IlefsTer2
ENST00000261584.8:c.3116del ENSP00000261584.4:p.Asn1039IlefsTer2
ENST00000566069.5:n.31del
ENST00000568219.5:c.2231del ENSP00000454703.2:p.Asn744IlefsTer2
NM_024675.3:c.3116del , LRG_308t1:c.3116del NP_078951.2:p.Asn1039IlefsTer2
XM_011545946.1:c.3122del XP_011544248.1:p.Asn1041IlefsTer2
XM_011545947.1:c.3122del XP_011544249.1:p.Asn1041IlefsTer2
XM_011545948.1:c.2231del XP_011544250.1:p.Asn744IlefsTer2
XR_950851.1:n.3910-6077del
XM_011545946.2:c.3122del XP_011544248.1:p.Asn1041IlefsTer2
XM_011545947.2:c.3122del XP_011544249.1:p.Asn1041IlefsTer2
XM_011545948.2:c.2231del XP_011544250.1:p.Asn744IlefsTer2
XM_017023671.1:c.3119+7273del XP_016879160.1:n.3119+7273del
XM_017023672.2:c.3113+7273del XP_016879161.1:n.3113+7273del
XM_017023673.2:c.3116del XP_016879162.1:p.Asn1039IlefsTer2
NM_024675.4:c.3116del MANE Select NP_078951.2:p.Asn1039IlefsTer2