Canonical Allele Identifier: CA2555254615
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23624049dup , CM000678.2:g.23624049dup GRCh38
NC_000016.9:g.23635370dup , CM000678.1:g.23635370dup GRCh37
NC_000016.8:g.23542871dup NCBI36
NG_007406.1:g.22309dup , LRG_308:g.22309dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2800dup ENSP00000460666.3:p.Val934GlyfsTer21
ENST00000565038.2:c.*275dup ENSP00000459882.2:n.*275dup
ENST00000566069.6:c.2794dup ENSP00000459237.2:p.Val932GlyfsTer21
ENST00000697377.2:c.2638dup ENSP00000513286.2:p.Val880GlyfsTer21
ENST00000697379.2:c.2800dup ENSP00000513287.2:p.Val934GlyfsTer21
ENST00000561514.2:c.1909dup ENSP00000460666.2:p.Val637GlyfsTer21
ENST00000697374.1:c.1909dup ENSP00000513284.1:p.Val637GlyfsTer21
ENST00000697375.1:n.4141dup
ENST00000697376.1:c.1909dup ENSP00000513285.1:p.Val637GlyfsTer21
ENST00000697377.1:c.1747dup ENSP00000513286.1:p.Val583GlyfsTer21
ENST00000697378.1:n.3314dup
ENST00000697379.1:c.1909dup ENSP00000513287.1:p.Val637GlyfsTer21
ENST00000697380.1:n.2086dup
ENST00000697381.1:n.1489dup
ENST00000697382.1:c.1909dup ENSP00000513288.1:p.Val637GlyfsTer21
ENST00000697383.1:c.328dup ENSP00000513289.1:p.Val110GlyfsTer21
ENST00000261584.9:c.2794dup MANE Select ENSP00000261584.4:p.Val932GlyfsTer21
ENST00000261584.8:c.2794dup ENSP00000261584.4:p.Val932GlyfsTer21
ENST00000568219.5:c.1909dup ENSP00000454703.2:p.Val637GlyfsTer21
NM_024675.3:c.2794dup , LRG_308t1:c.2794dup NP_078951.2:p.Val932GlyfsTer21
XM_011545946.1:c.2800dup XP_011544248.1:p.Val934GlyfsTer21
XM_011545947.1:c.2800dup XP_011544249.1:p.Val934GlyfsTer21
XM_011545948.1:c.1909dup XP_011544250.1:p.Val637GlyfsTer21
XR_950851.1:n.3590dup
XM_011545946.2:c.2800dup XP_011544248.1:p.Val934GlyfsTer21
XM_011545947.2:c.2800dup XP_011544249.1:p.Val934GlyfsTer21
XM_011545948.2:c.1909dup XP_011544250.1:p.Val637GlyfsTer21
XM_017023671.1:c.2800dup XP_016879160.1:p.Val934GlyfsTer21
XM_017023672.2:c.2794dup XP_016879161.1:p.Val932GlyfsTer21
XM_017023673.2:c.2794dup XP_016879162.1:p.Val932GlyfsTer21
NM_024675.4:c.2794dup MANE Select NP_078951.2:p.Val932GlyfsTer21