Canonical Allele Identifier: CA16609587
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 402307
ClinVar RCV Id: RCV000454312 RCV000484224
dbSNP Id: rs1060499828
MyVariant Identifiers: chr16:g.23619224del (hg19) chr16:g.23607903del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23607905del , CM000678.2:g.23607905del GRCh38
NC_000016.9:g.23619226del , CM000678.1:g.23619226del GRCh37
NC_000016.8:g.23526727del NCBI36
NG_007406.1:g.38455del , LRG_308:g.38455del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.3317del ENSP00000460666.3:p.Gly1106ValfsTer2
ENST00000565038.2:c.*792del ENSP00000459882.2:n.*792del
ENST00000566069.6:c.3202-4234del ENSP00000459237.2:n.3202-4234del
ENST00000697377.2:c.3155del ENSP00000513286.2:p.Gly1052ValfsTer2
ENST00000697379.2:c.3317del ENSP00000513287.2:p.Gly1106ValfsTer2
ENST00000561514.2:c.2426del ENSP00000460666.2:p.Gly809ValfsTer2
ENST00000697374.1:c.2426del ENSP00000513284.1:p.Gly809ValfsTer2
ENST00000697375.1:n.4658del
ENST00000697376.1:c.2317-4234del ENSP00000513285.1:n.2317-4234del
ENST00000697377.1:c.2264del ENSP00000513286.1:p.Gly755ValfsTer2
ENST00000697378.1:n.3831del
ENST00000697379.1:c.2426del ENSP00000513287.1:p.Gly809ValfsTer2
ENST00000697380.1:n.2515del
ENST00000697381.1:n.2006del
ENST00000697382.1:c.*88del ENSP00000513288.1:n.*88del
ENST00000697383.1:c.845del ENSP00000513289.1:p.Gly282ValfsTer2
ENST00000261584.9:c.3311del MANE Select ENSP00000261584.4:p.Gly1104ValfsTer2
ENST00000261584.8:c.3311del ENSP00000261584.4:p.Gly1104ValfsTer2
ENST00000566069.5:c.117-4234del
ENST00000568219.5:c.2426del ENSP00000454703.2:p.Gly809ValfsTer2
NM_024675.3:c.3311del , LRG_308t1:c.3311del NP_078951.2:p.Gly1104ValfsTer2
XM_011545946.1:c.3317del XP_011544248.1:p.Gly1106ValfsTer2
XM_011545947.1:c.3208-4234del XP_011544249.1:n.3208-4234del
XM_011545948.1:c.2426del XP_011544250.1:p.Gly809ValfsTer2
XR_950851.1:n.4019del
XM_011545946.2:c.3317del XP_011544248.1:p.Gly1106ValfsTer2
XM_011545947.2:c.3208-4234del XP_011544249.1:n.3208-4234del
XM_011545948.2:c.2426del XP_011544250.1:p.Gly809ValfsTer2
XM_017023671.1:c.3120-4234del XP_016879160.1:n.3120-4234del
XM_017023672.2:c.3114-4234del XP_016879161.1:n.3114-4234del
XM_017023673.2:c.3202-4234del XP_016879162.1:n.3202-4234del
NM_024675.4:c.3311del MANE Select NP_078951.2:p.Gly1104ValfsTer2
Search 100 bp 5'
Search 100 bp 3'