Canonical Allele Identifier: CA16620153
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421480
dbSNP Id: rs1064795168

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635479_23635480insAT , CM000678.2:g.23635479_23635480insAT GRCh38
NC_000016.9:g.23646800_23646801insAT , CM000678.1:g.23646800_23646801insAT GRCh37
NC_000016.8:g.23554301_23554302insAT NCBI36
NG_007406.1:g.10879_10880insTA , LRG_308:g.10879_10880insTA

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.1073_1074insTA ENSP00000460666.3:p.Lys358AsnfsTer21
ENST00000565038.2:c.211+2371_211+2372insTA ENSP00000459882.2:n.211+2371_211+2372insT...
ENST00000566069.6:c.1067_1068insTA ENSP00000459237.2:p.Lys356AsnfsTer21
ENST00000697377.2:c.1073_1074insTA ENSP00000513286.2:p.Lys358AsnfsTer21
ENST00000697379.2:c.1073_1074insTA ENSP00000513287.2:p.Lys358AsnfsTer21
ENST00000561514.2:c.182_183insTA ENSP00000460666.2:p.Lys61AsnfsTer21
ENST00000697374.1:c.182_183insTA ENSP00000513284.1:p.Lys61AsnfsTer21
ENST00000697375.1:n.2414_2415insTA
ENST00000697376.1:c.182_183insTA ENSP00000513285.1:p.Lys61AsnfsTer21
ENST00000697377.1:c.182_183insTA ENSP00000513286.1:p.Lys61AsnfsTer21
ENST00000697378.1:n.1587_1588insTA
ENST00000697379.1:c.182_183insTA ENSP00000513287.1:p.Lys61AsnfsTer21
ENST00000697382.1:c.182_183insTA ENSP00000513288.1:p.Lys61AsnfsTer21
ENST00000697383.1:c.48+5631_48+5632insTA ENSP00000513289.1:n.48+5631_48+5632insTA
ENST00000697384.1:n.1221_1222insTA
ENST00000261584.9:c.1067_1068insTA MANE Select ENSP00000261584.4:p.Lys356AsnfsTer21
ENST00000261584.8:c.1067_1068insTA ENSP00000261584.4:p.Lys356AsnfsTer21
ENST00000565038.1:c.86+2371_86+2372insTA
ENST00000568219.5:c.182_183insTA ENSP00000454703.2:p.Lys61AsnfsTer21
NM_024675.3:c.1067_1068insTA , LRG_308t1:c.1067_1068insTA NP_078951.2:p.Lys356AsnfsTer21
XM_011545946.1:c.1073_1074insTA XP_011544248.1:p.Lys358AsnfsTer21
XM_011545947.1:c.1073_1074insTA XP_011544249.1:p.Lys358AsnfsTer21
XM_011545948.1:c.182_183insTA XP_011544250.1:p.Lys61AsnfsTer21
XR_950851.1:n.1863_1864insTA
XM_011545946.2:c.1073_1074insTA XP_011544248.1:p.Lys358AsnfsTer21
XM_011545947.2:c.1073_1074insTA XP_011544249.1:p.Lys358AsnfsTer21
XM_011545948.2:c.182_183insTA XP_011544250.1:p.Lys61AsnfsTer21
XM_017023671.1:c.1073_1074insTA XP_016879160.1:p.Lys358AsnfsTer21
XM_017023672.2:c.1067_1068insTA XP_016879161.1:p.Lys356AsnfsTer21
XM_017023673.2:c.1067_1068insTA XP_016879162.1:p.Lys356AsnfsTer21
NM_024675.4:c.1067_1068insTA MANE Select NP_078951.2:p.Lys356AsnfsTer21