Canonical Allele Identifier: CA658683931
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 492204
ClinVar RCV Id: RCV000581179
dbSNP Id: rs1555462510

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23641128_23641129delinsAA , CM000678.2:g.23641128_23641129delinsAA GRCh38
NC_000016.9:g.23652449_23652450delinsAA , CM000678.1:g.23652449_23652450delinsAA GRCh37
NC_000016.8:g.23559950_23559951delinsAA NCBI36
NG_007406.1:g.5229_5230delinsTT , LRG_308:g.5229_5230delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.-824_-823delinsTT ENSP00000460666.3:n.-824_-823delinsTT
ENST00000565038.2:c.29_30delinsTT ENSP00000459882.2:p.Ser10Ile
ENST00000566069.6:c.29_30delinsTT ENSP00000459237.2:p.Ser10Ile
ENST00000697377.2:c.-211_-210delinsTT ENSP00000513286.2:n.-211_-210delinsTT
ENST00000697379.2:c.-117_-116delinsTT ENSP00000513287.2:n.-117_-116delinsTT
ENST00000561514.2:c.-1715_-1714delinsTT ENSP00000460666.2:n.-1715_-1714delinsTT
ENST00000697374.1:c.-1306_-1305delinsTT ENSP00000513284.1:n.-1306_-1305delinsTT
ENST00000697376.1:c.-1027_-1026delinsTT ENSP00000513285.1:n.-1027_-1026delinsTT
ENST00000697377.1:c.-1102_-1101delinsTT ENSP00000513286.1:n.-1102_-1101delinsTT
ENST00000697379.1:c.-1008_-1007delinsTT ENSP00000513287.1:n.-1008_-1007delinsTT
ENST00000697382.1:c.-1766_-1765delinsTT ENSP00000513288.1:n.-1766_-1765delinsTT
ENST00000697383.1:c.29_30delinsTT ENSP00000513289.1:p.Ser10Ile
ENST00000697384.1:n.183_184delinsTT
ENST00000261584.9:c.29_30delinsTT MANE Select ENSP00000261584.4:p.Ser10Ile
ENST00000261584.8:c.29_30delinsTT ENSP00000261584.4:p.Ser10Ile
ENST00000567003.1:n.173_174delinsTT
ENST00000568219.5:c.-840_-839delinsTT ENSP00000454703.2:n.-840_-839delinsTT
NM_024675.3:c.29_30delinsTT , LRG_308t1:c.29_30delinsTT NP_078951.2:p.Ser10Ile
XM_011545948.1:c.-991_-990delinsTT XP_011544250.1:n.-991_-990delinsTT
XM_011545946.2:c.-824_-823delinsTT XP_011544248.1:n.-824_-823delinsTT
XM_011545947.2:c.-824_-823delinsTT XP_011544249.1:n.-824_-823delinsTT
XM_011545948.2:c.-991_-990delinsTT XP_011544250.1:n.-991_-990delinsTT
XM_017023671.1:c.-824_-823delinsTT XP_016879160.1:n.-824_-823delinsTT
XM_017023672.2:c.29_30delinsTT XP_016879161.1:p.Ser10Ile
XM_017023673.2:c.29_30delinsTT XP_016879162.1:p.Ser10Ile
NM_024675.4:c.29_30delinsTT MANE Select NP_078951.2:p.Ser10Ile