Canonical Allele Identifier: CA2213421811
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629672_23629674delinsATG , CM000678.2:g.23629672_23629674delinsATG GRCh38
NC_000016.9:g.23640993_23640995delinsATG , CM000678.1:g.23640993_23640995delinsATG GRCh37
NC_000016.8:g.23548494_23548496delinsATG NCBI36
NG_007406.1:g.16684_16686delinsCAT , LRG_308:g.16684_16686delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2486_2488delinsCAT ENSP00000460666.3:p.Thr829=
ENST00000565038.2:c.212-399_212-397delinsCAT ENSP00000459882.2:n.212-399_212-397delinsCAT
ENST00000566069.6:c.2480_2482delinsCAT ENSP00000459237.2:p.Thr827=
ENST00000697377.2:c.2486_2488delinsCAT ENSP00000513286.2:p.Thr829=
ENST00000697379.2:c.2486_2488delinsCAT ENSP00000513287.2:p.Thr829=
ENST00000561514.2:c.1595_1597delinsCAT ENSP00000460666.2:p.Thr532=
ENST00000697374.1:c.1595_1597delinsCAT ENSP00000513284.1:p.Thr532=
ENST00000697375.1:n.3827_3829delinsCAT
ENST00000697376.1:c.1595_1597delinsCAT ENSP00000513285.1:p.Thr532=
ENST00000697377.1:c.1595_1597delinsCAT ENSP00000513286.1:p.Thr532=
ENST00000697378.1:n.3000_3002delinsCAT
ENST00000697379.1:c.1595_1597delinsCAT ENSP00000513287.1:p.Thr532=
ENST00000697380.1:n.1408_1410delinsCAT
ENST00000697381.1:n.1175_1177delinsCAT
ENST00000697382.1:c.1595_1597delinsCAT ENSP00000513288.1:p.Thr532=
ENST00000697383.1:c.49-399_49-397delinsCAT ENSP00000513289.1:n.49-399_49-397delinsCAT
ENST00000697384.1:n.2634_2636delinsCAT
ENST00000261584.9:c.2480_2482delinsCAT MANE Select ENSP00000261584.4:p.Thr827=
ENST00000261584.8:c.2480_2482delinsCAT ENSP00000261584.4:p.Thr827=
ENST00000565038.1:c.87-399_87-397delinsCAT
ENST00000568219.5:c.1595_1597delinsCAT ENSP00000454703.2:p.Thr532=
NM_024675.3:c.2480_2482delinsCAT , LRG_308t1:c.2480_2482delinsCAT NP_078951.2:p.Thr827=
XM_011545946.1:c.2486_2488delinsCAT XP_011544248.1:p.Thr829=
XM_011545947.1:c.2486_2488delinsCAT XP_011544249.1:p.Thr829=
XM_011545948.1:c.1595_1597delinsCAT XP_011544250.1:p.Thr532=
XR_950851.1:n.3276_3278delinsCAT
XM_011545946.2:c.2486_2488delinsCAT XP_011544248.1:p.Thr829=
XM_011545947.2:c.2486_2488delinsCAT XP_011544249.1:p.Thr829=
XM_011545948.2:c.1595_1597delinsCAT XP_011544250.1:p.Thr532=
XM_017023671.1:c.2486_2488delinsCAT XP_016879160.1:p.Thr829=
XM_017023672.2:c.2480_2482delinsCAT XP_016879161.1:p.Thr827=
XM_017023673.2:c.2480_2482delinsCAT XP_016879162.1:p.Thr827=
NM_024675.4:c.2480_2482delinsCAT MANE Select NP_078951.2:p.Thr827=