Canonical Allele Identifier: CA2213421757
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629657_23629672delinsTATGCAGCTCCTGGCA , CM000678.2:g.23629657_23629672delinsTATGCAGCTCCTGGCA GRCh38
NC_000016.9:g.23640978_23640993delinsTATGCAGCTCCTGGCA , CM000678.1:g.23640978_23640993delinsTATGCAGCTCCTGGCA GRCh37
NC_000016.8:g.23548479_23548494delinsTATGCAGCTCCTGGCA NCBI36
NG_007406.1:g.16686_16701delinsTGCCAGGAGCTGCATA , LRG_308:g.16686_16701delinsTGCCAGGAGCTGCATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2488_2503delinsTGCCAGGAGCTGCATA ENSP00000460666.3:p.Cys830=
ENST00000565038.2:c.212-397_212-382delinsTGCCAGGAGCTGCATA ENSP00000459882.2:n.212-397_212-382delinsTGCCAGGAGCTGCATA
ENST00000566069.6:c.2482_2497delinsTGCCAGGAGCTGCATA ENSP00000459237.2:p.Cys828=
ENST00000697377.2:c.2488_2503delinsTGCCAGGAGCTGCATA ENSP00000513286.2:p.Cys830=
ENST00000697379.2:c.2488_2503delinsTGCCAGGAGCTGCATA ENSP00000513287.2:p.Cys830=
ENST00000561514.2:c.1597_1612delinsTGCCAGGAGCTGCATA ENSP00000460666.2:p.Cys533=
ENST00000697374.1:c.1597_1612delinsTGCCAGGAGCTGCATA ENSP00000513284.1:p.Cys533=
ENST00000697375.1:n.3829_3844delinsTGCCAGGAGCTGCATA
ENST00000697376.1:c.1597_1612delinsTGCCAGGAGCTGCATA ENSP00000513285.1:p.Cys533=
ENST00000697377.1:c.1597_1612delinsTGCCAGGAGCTGCATA ENSP00000513286.1:p.Cys533=
ENST00000697378.1:n.3002_3017delinsTGCCAGGAGCTGCATA
ENST00000697379.1:c.1597_1612delinsTGCCAGGAGCTGCATA ENSP00000513287.1:p.Cys533=
ENST00000697380.1:n.1410_1425delinsTGCCAGGAGCTGCATA
ENST00000697381.1:n.1177_1192delinsTGCCAGGAGCTGCATA
ENST00000697382.1:c.1597_1612delinsTGCCAGGAGCTGCATA ENSP00000513288.1:p.Cys533=
ENST00000697383.1:c.49-397_49-382delinsTGCCAGGAGCTGCATA ENSP00000513289.1:n.49-397_49-382delinsTGCCAGGAGCTGCATA
ENST00000697384.1:n.2636_2651delinsTGCCAGGAGCTGCATA
ENST00000261584.9:c.2482_2497delinsTGCCAGGAGCTGCATA MANE Select ENSP00000261584.4:p.Cys828=
ENST00000261584.8:c.2482_2497delinsTGCCAGGAGCTGCATA ENSP00000261584.4:p.Cys828=
ENST00000565038.1:c.87-397_87-382delinsTGCCAGGAGCTGCATA
ENST00000568219.5:c.1597_1612delinsTGCCAGGAGCTGCATA ENSP00000454703.2:p.Cys533=
NM_024675.3:c.2482_2497delinsTGCCAGGAGCTGCATA , LRG_308t1:c.2482_2497delinsTGCCAGGAGCTGCATA NP_078951.2:p.Cys828=
XM_011545946.1:c.2488_2503delinsTGCCAGGAGCTGCATA XP_011544248.1:p.Cys830=
XM_011545947.1:c.2488_2503delinsTGCCAGGAGCTGCATA XP_011544249.1:p.Cys830=
XM_011545948.1:c.1597_1612delinsTGCCAGGAGCTGCATA XP_011544250.1:p.Cys533=
XR_950851.1:n.3278_3293delinsTGCCAGGAGCTGCATA
XM_011545946.2:c.2488_2503delinsTGCCAGGAGCTGCATA XP_011544248.1:p.Cys830=
XM_011545947.2:c.2488_2503delinsTGCCAGGAGCTGCATA XP_011544249.1:p.Cys830=
XM_011545948.2:c.1597_1612delinsTGCCAGGAGCTGCATA XP_011544250.1:p.Cys533=
XM_017023671.1:c.2488_2503delinsTGCCAGGAGCTGCATA XP_016879160.1:p.Cys830=
XM_017023672.2:c.2482_2497delinsTGCCAGGAGCTGCATA XP_016879161.1:p.Cys828=
XM_017023673.2:c.2482_2497delinsTGCCAGGAGCTGCATA XP_016879162.1:p.Cys828=
NM_024675.4:c.2482_2497delinsTGCCAGGAGCTGCATA MANE Select NP_078951.2:p.Cys828=