Canonical Allele Identifier: CA2213423685
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630124_23630125delinsAC , CM000678.2:g.23630124_23630125delinsAC GRCh38
NC_000016.9:g.23641445_23641446delinsAC , CM000678.1:g.23641445_23641446delinsAC GRCh37
NC_000016.8:g.23548946_23548947delinsAC NCBI36
NG_007406.1:g.16233_16234delinsGT , LRG_308:g.16233_16234delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2035_2036delinsGT ENSP00000460666.3:p.Val679=
ENST00000565038.2:c.212-850_212-849delinsGT ENSP00000459882.2:n.212-850_212-849delinsGT
ENST00000566069.6:c.2029_2030delinsGT ENSP00000459237.2:p.Val677=
ENST00000697377.2:c.2035_2036delinsGT ENSP00000513286.2:p.Val679=
ENST00000697379.2:c.2035_2036delinsGT ENSP00000513287.2:p.Val679=
ENST00000561514.2:c.1144_1145delinsGT ENSP00000460666.2:p.Val382=
ENST00000697374.1:c.1144_1145delinsGT ENSP00000513284.1:p.Val382=
ENST00000697375.1:n.3376_3377delinsGT
ENST00000697376.1:c.1144_1145delinsGT ENSP00000513285.1:p.Val382=
ENST00000697377.1:c.1144_1145delinsGT ENSP00000513286.1:p.Val382=
ENST00000697378.1:n.2549_2550delinsGT
ENST00000697379.1:c.1144_1145delinsGT ENSP00000513287.1:p.Val382=
ENST00000697380.1:n.957_958delinsGT
ENST00000697381.1:n.724_725delinsGT
ENST00000697382.1:c.1144_1145delinsGT ENSP00000513288.1:p.Val382=
ENST00000697383.1:c.49-850_49-849delinsGT ENSP00000513289.1:n.49-850_49-849delinsGT
ENST00000697384.1:n.2183_2184delinsGT
ENST00000261584.9:c.2029_2030delinsGT MANE Select ENSP00000261584.4:p.Val677=
ENST00000261584.8:c.2029_2030delinsGT ENSP00000261584.4:p.Val677=
ENST00000565038.1:c.87-850_87-849delinsGT
ENST00000568219.5:c.1144_1145delinsGT ENSP00000454703.2:p.Val382=
NM_024675.3:c.2029_2030delinsGT , LRG_308t1:c.2029_2030delinsGT NP_078951.2:p.Val677=
XM_011545946.1:c.2035_2036delinsGT XP_011544248.1:p.Val679=
XM_011545947.1:c.2035_2036delinsGT XP_011544249.1:p.Val679=
XM_011545948.1:c.1144_1145delinsGT XP_011544250.1:p.Val382=
XR_950851.1:n.2825_2826delinsGT
XM_011545946.2:c.2035_2036delinsGT XP_011544248.1:p.Val679=
XM_011545947.2:c.2035_2036delinsGT XP_011544249.1:p.Val679=
XM_011545948.2:c.1144_1145delinsGT XP_011544250.1:p.Val382=
XM_017023671.1:c.2035_2036delinsGT XP_016879160.1:p.Val679=
XM_017023672.2:c.2029_2030delinsGT XP_016879161.1:p.Val677=
XM_017023673.2:c.2029_2030delinsGT XP_016879162.1:p.Val677=
NM_024675.4:c.2029_2030delinsGT MANE Select NP_078951.2:p.Val677=