Canonical Allele Identifier: CA2695197573
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2674069
ClinVar RCV Id: RCV003452265
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621371del , CM000678.2:g.23621371del GRCh38
NC_000016.9:g.23632692del , CM000678.1:g.23632692del GRCh37
NC_000016.8:g.23540193del NCBI36
NG_007406.1:g.24988del , LRG_308:g.24988del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3111del ENSP00000460666.3:p.Ile1037MetfsTer6
ENST00000565038.2:c.*586del ENSP00000459882.2:n.*586del
ENST00000566069.6:c.3105del ENSP00000459237.2:p.Ile1035MetfsTer6
ENST00000697377.2:c.2949del ENSP00000513286.2:p.Ile983MetfsTer6
ENST00000697379.2:c.3111del ENSP00000513287.2:p.Ile1037MetfsTer6
ENST00000561514.2:c.2220del ENSP00000460666.2:p.Ile740MetfsTer6
ENST00000697374.1:c.2220del ENSP00000513284.1:p.Ile740MetfsTer6
ENST00000697375.1:n.4452del
ENST00000697376.1:c.2220del ENSP00000513285.1:p.Ile740MetfsTer6
ENST00000697377.1:c.2058del ENSP00000513286.1:p.Ile686MetfsTer6
ENST00000697378.1:n.3625del
ENST00000697379.1:c.2220del ENSP00000513287.1:p.Ile740MetfsTer6
ENST00000697380.1:n.2397del
ENST00000697381.1:n.1800del
ENST00000697382.1:c.2220del ENSP00000513288.1:p.Ile740MetfsTer19
ENST00000697383.1:c.639del ENSP00000513289.1:p.Ile213MetfsTer6
ENST00000261584.9:c.3105del MANE Select ENSP00000261584.4:p.Ile1035MetfsTer6
ENST00000261584.8:c.3105del ENSP00000261584.4:p.Ile1035MetfsTer6
ENST00000566069.5:c.20del
ENST00000568219.5:c.2220del ENSP00000454703.2:p.Ile740MetfsTer6
NM_024675.3:c.3105del , LRG_308t1:c.3105del NP_078951.2:p.Ile1035MetfsTer6
XM_011545946.1:c.3111del XP_011544248.1:p.Ile1037MetfsTer6
XM_011545947.1:c.3111del XP_011544249.1:p.Ile1037MetfsTer6
XM_011545948.1:c.2220del XP_011544250.1:p.Ile740MetfsTer6
XR_950851.1:n.3901del
XM_011545946.2:c.3111del XP_011544248.1:p.Ile1037MetfsTer6
XM_011545947.2:c.3111del XP_011544249.1:p.Ile1037MetfsTer6
XM_011545948.2:c.2220del XP_011544250.1:p.Ile740MetfsTer6
XM_017023671.1:c.3111del XP_016879160.1:p.Ile1037MetfsTer10
XM_017023672.2:c.3105del XP_016879161.1:p.Ile1035MetfsTer10
XM_017023673.2:c.3105del XP_016879162.1:p.Ile1035MetfsTer6
NM_024675.4:c.3105del MANE Select NP_078951.2:p.Ile1035MetfsTer6
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