Canonical Allele Identifier: CA2573152172
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1439382
ClinVar RCV Id: RCV001974943
dbSNP Id: rs2142325956
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621364_23621368del , CM000678.2:g.23621364_23621368del GRCh38
NC_000016.9:g.23632685_23632689del , CM000678.1:g.23632685_23632689del GRCh37
NC_000016.8:g.23540186_23540190del NCBI36
NG_007406.1:g.24991_24995del , LRG_308:g.24991_24995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3114_3118del ENSP00000460666.3:p.Ile1039GlufsTer14
ENST00000565038.2:c.*589_*593del ENSP00000459882.2:n.*589_*593del
ENST00000566069.6:c.3108_3112del ENSP00000459237.2:p.Ile1037GlufsTer14
ENST00000697377.2:c.2952_2956del ENSP00000513286.2:p.Ile985GlufsTer14
ENST00000697379.2:c.3114_3118del ENSP00000513287.2:p.Ile1039GlufsTer14
ENST00000561514.2:c.2223_2227del ENSP00000460666.2:p.Ile742GlufsTer14
ENST00000697374.1:c.2223_2227del ENSP00000513284.1:p.Ile742GlufsTer14
ENST00000697375.1:n.4455_4459del
ENST00000697376.1:c.2223_2227del ENSP00000513285.1:p.Ile742GlufsTer14
ENST00000697377.1:c.2061_2065del ENSP00000513286.1:p.Ile688GlufsTer14
ENST00000697378.1:n.3628_3632del
ENST00000697379.1:c.2223_2227del ENSP00000513287.1:p.Ile742GlufsTer14
ENST00000697380.1:n.2400_2404del
ENST00000697381.1:n.1803_1807del
ENST00000697382.1:c.2223_2227del ENSP00000513288.1:p.Ile742GlyfsTer?
ENST00000697383.1:c.642_646del ENSP00000513289.1:p.Ile215GlufsTer14
ENST00000261584.9:c.3108_3112del MANE Select ENSP00000261584.4:p.Ile1037GlufsTer14
ENST00000261584.8:c.3108_3112del ENSP00000261584.4:p.Ile1037GlufsTer14
ENST00000566069.5:c.23_27del
ENST00000568219.5:c.2223_2227del ENSP00000454703.2:p.Ile742GlufsTer14
NM_024675.3:c.3108_3112del , LRG_308t1:c.3108_3112del NP_078951.2:p.Ile1037GlufsTer14
XM_011545946.1:c.3114_3118del XP_011544248.1:p.Ile1039GlufsTer14
XM_011545947.1:c.3114_3118del XP_011544249.1:p.Ile1039GlufsTer14
XM_011545948.1:c.2223_2227del XP_011544250.1:p.Ile742GlufsTer14
XR_950851.1:n.3904_3908del
XM_011545946.2:c.3114_3118del XP_011544248.1:p.Ile1039GlufsTer14
XM_011545947.2:c.3114_3118del XP_011544249.1:p.Ile1039GlufsTer14
XM_011545948.2:c.2223_2227del XP_011544250.1:p.Ile742GlufsTer14
XM_017023671.1:c.3114_3118del XP_016879160.1:p.Ile1039ValfsTer5
XM_017023672.2:c.3108_3112del XP_016879161.1:p.Ile1037ValfsTer5
XM_017023673.2:c.3108_3112del XP_016879162.1:p.Ile1037GlufsTer14
NM_024675.4:c.3108_3112del MANE Select NP_078951.2:p.Ile1037GlufsTer14
Search 100 bp 5'
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