Canonical Allele Identifier: CA2530832434
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23624043_23624044insGGCG , CM000678.2:g.23624043_23624044insGGCG GRCh38
NC_000016.9:g.23635364_23635365insGGCG , CM000678.1:g.23635364_23635365insGGCG GRCh37
NC_000016.8:g.23542865_23542866insGGCG NCBI36
NG_007406.1:g.22314_22315insCGCC , LRG_308:g.22314_22315insCGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2805_2806insCGCC ENSP00000460666.3:p.Val936ArgfsTer20
ENST00000565038.2:c.*280_*281insCGCC ENSP00000459882.2:n.*280_*281insCGCC
ENST00000566069.6:c.2799_2800insCGCC ENSP00000459237.2:p.Val934ArgfsTer20
ENST00000697377.2:c.2643_2644insCGCC ENSP00000513286.2:p.Val882ArgfsTer20
ENST00000697379.2:c.2805_2806insCGCC ENSP00000513287.2:p.Val936ArgfsTer20
ENST00000561514.2:c.1914_1915insCGCC ENSP00000460666.2:p.Val639ArgfsTer20
ENST00000697374.1:c.1914_1915insCGCC ENSP00000513284.1:p.Val639ArgfsTer20
ENST00000697375.1:n.4146_4147insCGCC
ENST00000697376.1:c.1914_1915insCGCC ENSP00000513285.1:p.Val639ArgfsTer20
ENST00000697377.1:c.1752_1753insCGCC ENSP00000513286.1:p.Val585ArgfsTer20
ENST00000697378.1:n.3319_3320insCGCC
ENST00000697379.1:c.1914_1915insCGCC ENSP00000513287.1:p.Val639ArgfsTer20
ENST00000697380.1:n.2091_2092insCGCC
ENST00000697381.1:n.1494_1495insCGCC
ENST00000697382.1:c.1914_1915insCGCC ENSP00000513288.1:p.Val639ArgfsTer20
ENST00000697383.1:c.333_334insCGCC ENSP00000513289.1:p.Val112ArgfsTer20
ENST00000261584.9:c.2799_2800insCGCC MANE Select ENSP00000261584.4:p.Val934ArgfsTer20
ENST00000261584.8:c.2799_2800insCGCC ENSP00000261584.4:p.Val934ArgfsTer20
ENST00000568219.5:c.1914_1915insCGCC ENSP00000454703.2:p.Val639ArgfsTer20
NM_024675.3:c.2799_2800insCGCC , LRG_308t1:c.2799_2800insCGCC NP_078951.2:p.Val934ArgfsTer20
XM_011545946.1:c.2805_2806insCGCC XP_011544248.1:p.Val936ArgfsTer20
XM_011545947.1:c.2805_2806insCGCC XP_011544249.1:p.Val936ArgfsTer20
XM_011545948.1:c.1914_1915insCGCC XP_011544250.1:p.Val639ArgfsTer20
XR_950851.1:n.3595_3596insCGCC
XM_011545946.2:c.2805_2806insCGCC XP_011544248.1:p.Val936ArgfsTer20
XM_011545947.2:c.2805_2806insCGCC XP_011544249.1:p.Val936ArgfsTer20
XM_011545948.2:c.1914_1915insCGCC XP_011544250.1:p.Val639ArgfsTer20
XM_017023671.1:c.2805_2806insCGCC XP_016879160.1:p.Val936ArgfsTer20
XM_017023672.2:c.2799_2800insCGCC XP_016879161.1:p.Val934ArgfsTer20
XM_017023673.2:c.2799_2800insCGCC XP_016879162.1:p.Val934ArgfsTer20
NM_024675.4:c.2799_2800insCGCC MANE Select NP_078951.2:p.Val934ArgfsTer20