Canonical Allele Identifier: CA2580613446
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2567586
ClinVar RCV Id: RCV003311311
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621435_23621438delinsCAC , CM000678.2:g.23621435_23621438delinsCAC GRCh38
NC_000016.9:g.23632756_23632759delinsCAC , CM000678.1:g.23632756_23632759delinsCAC GRCh37
NC_000016.8:g.23540257_23540260delinsCAC NCBI36
NG_007406.1:g.24920_24923delinsGTG , LRG_308:g.24920_24923delinsGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3043_3046delinsGTG ENSP00000460666.3:p.Ile1015ValfsTer2
ENST00000565038.2:c.*518_*521delinsGTG ENSP00000459882.2:n.*518_*521delinsGTG
ENST00000566069.6:c.3037_3040delinsGTG ENSP00000459237.2:p.Ile1013ValfsTer2
ENST00000697377.2:c.2881_2884delinsGTG ENSP00000513286.2:p.Ile961ValfsTer2
ENST00000697379.2:c.3043_3046delinsGTG ENSP00000513287.2:p.Ile1015ValfsTer2
ENST00000561514.2:c.2152_2155delinsGTG ENSP00000460666.2:p.Ile718ValfsTer2
ENST00000697374.1:c.2152_2155delinsGTG ENSP00000513284.1:p.Ile718ValfsTer2
ENST00000697375.1:n.4384_4387delinsGTG
ENST00000697376.1:c.2152_2155delinsGTG ENSP00000513285.1:p.Ile718ValfsTer2
ENST00000697377.1:c.1990_1993delinsGTG ENSP00000513286.1:p.Ile664ValfsTer2
ENST00000697378.1:n.3557_3560delinsGTG
ENST00000697379.1:c.2152_2155delinsGTG ENSP00000513287.1:p.Ile718ValfsTer2
ENST00000697380.1:n.2329_2332delinsGTG
ENST00000697381.1:n.1732_1735delinsGTG
ENST00000697382.1:c.2152_2155delinsGTG ENSP00000513288.1:p.Ile718ValfsTer2
ENST00000697383.1:c.571_574delinsGTG ENSP00000513289.1:p.Ile191ValfsTer2
ENST00000261584.9:c.3037_3040delinsGTG MANE Select ENSP00000261584.4:p.Ile1013ValfsTer2
ENST00000261584.8:c.3037_3040delinsGTG ENSP00000261584.4:p.Ile1013ValfsTer2
ENST00000568219.5:c.2152_2155delinsGTG ENSP00000454703.2:p.Ile718ValfsTer2
NM_024675.3:c.3037_3040delinsGTG , LRG_308t1:c.3037_3040delinsGTG NP_078951.2:p.Ile1013ValfsTer2
XM_011545946.1:c.3043_3046delinsGTG XP_011544248.1:p.Ile1015ValfsTer2
XM_011545947.1:c.3043_3046delinsGTG XP_011544249.1:p.Ile1015ValfsTer2
XM_011545948.1:c.2152_2155delinsGTG XP_011544250.1:p.Ile718ValfsTer2
XR_950851.1:n.3833_3836delinsGTG
XM_011545946.2:c.3043_3046delinsGTG XP_011544248.1:p.Ile1015ValfsTer2
XM_011545947.2:c.3043_3046delinsGTG XP_011544249.1:p.Ile1015ValfsTer2
XM_011545948.2:c.2152_2155delinsGTG XP_011544250.1:p.Ile718ValfsTer2
XM_017023671.1:c.3043_3046delinsGTG XP_016879160.1:p.Ile1015ValfsTer2
XM_017023672.2:c.3037_3040delinsGTG XP_016879161.1:p.Ile1013ValfsTer2
XM_017023673.2:c.3037_3040delinsGTG XP_016879162.1:p.Ile1013ValfsTer2
NM_024675.4:c.3037_3040delinsGTG MANE Select NP_078951.2:p.Ile1013ValfsTer2
Search 100 bp 5'
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