Canonical Allele Identifier: CA915949187
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 657303
dbSNP Id: rs1597089845

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629968_23629969insT , CM000678.2:g.23629968_23629969insT GRCh38
NC_000016.9:g.23641289_23641290insT , CM000678.1:g.23641289_23641290insT GRCh37
NC_000016.8:g.23548790_23548791insT NCBI36
NG_007406.1:g.16389_16390insA , LRG_308:g.16389_16390insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2191_2192insA ENSP00000460666.3:p.Pro731HisfsTer16
ENST00000565038.2:c.212-694_212-693insA ENSP00000459882.2:n.212-694_212-693insA
ENST00000566069.6:c.2185_2186insA ENSP00000459237.2:p.Pro729HisfsTer16
ENST00000697377.2:c.2191_2192insA ENSP00000513286.2:p.Pro731HisfsTer16
ENST00000697379.2:c.2191_2192insA ENSP00000513287.2:p.Pro731HisfsTer16
ENST00000561514.2:c.1300_1301insA ENSP00000460666.2:p.Pro434HisfsTer16
ENST00000697374.1:c.1300_1301insA ENSP00000513284.1:p.Pro434HisfsTer16
ENST00000697375.1:n.3532_3533insA
ENST00000697376.1:c.1300_1301insA ENSP00000513285.1:p.Pro434HisfsTer16
ENST00000697377.1:c.1300_1301insA ENSP00000513286.1:p.Pro434HisfsTer16
ENST00000697378.1:n.2705_2706insA
ENST00000697379.1:c.1300_1301insA ENSP00000513287.1:p.Pro434HisfsTer16
ENST00000697380.1:n.1113_1114insA
ENST00000697381.1:n.880_881insA
ENST00000697382.1:c.1300_1301insA ENSP00000513288.1:p.Pro434HisfsTer16
ENST00000697383.1:c.49-694_49-693insA ENSP00000513289.1:n.49-694_49-693insA
ENST00000697384.1:n.2339_2340insA
ENST00000261584.9:c.2185_2186insA MANE Select ENSP00000261584.4:p.Pro729HisfsTer16
ENST00000261584.8:c.2185_2186insA ENSP00000261584.4:p.Pro729HisfsTer16
ENST00000565038.1:c.87-694_87-693insA
ENST00000568219.5:c.1300_1301insA ENSP00000454703.2:p.Pro434HisfsTer16
NM_024675.3:c.2185_2186insA , LRG_308t1:c.2185_2186insA NP_078951.2:p.Pro729HisfsTer16
XM_011545946.1:c.2191_2192insA XP_011544248.1:p.Pro731HisfsTer16
XM_011545947.1:c.2191_2192insA XP_011544249.1:p.Pro731HisfsTer16
XM_011545948.1:c.1300_1301insA XP_011544250.1:p.Pro434HisfsTer16
XR_950851.1:n.2981_2982insA
XM_011545946.2:c.2191_2192insA XP_011544248.1:p.Pro731HisfsTer16
XM_011545947.2:c.2191_2192insA XP_011544249.1:p.Pro731HisfsTer16
XM_011545948.2:c.1300_1301insA XP_011544250.1:p.Pro434HisfsTer16
XM_017023671.1:c.2191_2192insA XP_016879160.1:p.Pro731HisfsTer16
XM_017023672.2:c.2185_2186insA XP_016879161.1:p.Pro729HisfsTer16
XM_017023673.2:c.2185_2186insA XP_016879162.1:p.Pro729HisfsTer16
NM_024675.4:c.2185_2186insA MANE Select NP_078951.2:p.Pro729HisfsTer16