Canonical Allele Identifier: CA10576116

Gene: PALB2

Linked Data

• ClinVar Variation Id: 225849
• ClinVar RCV Id: RCV000211082
• dbSNP Id: rs875989791
• MyVariant Identifiers: chr16:g.23647174dupT (hg19) ; chr16:g.23647173_23647174insT (hg19) ; chr16:g.23635853dupT (hg38) ; chr16:g.23635852_23635853insT (hg38)
• PubMed: PMID:26283626

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635857dup , CM000678.2:g.23635857dup	GRCh38
NC_000016.9:g.23647178dup , CM000678.1:g.23647178dup	GRCh37
NC_000016.8:g.23554679dup	NCBI36
NG_007406.1:g.10505dup , LRG_308:g.10505dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.699dup	ENSP00000460666.3:p.Gly234ArgfsTer3
ENST00000565038.2:c.211+1997dup	ENSP00000459882.2:n.211+1997dup
ENST00000566069.6:c.693dup	ENSP00000459237.2:p.Gly232ArgfsTer3
ENST00000697377.2:c.699dup	ENSP00000513286.2:p.Gly234ArgfsTer3
ENST00000697379.2:c.699dup	ENSP00000513287.2:p.Gly234ArgfsTer3
ENST00000561514.2:c.-193dup	ENSP00000460666.2:n.-193dup
ENST00000697374.1:c.-193dup	ENSP00000513284.1:n.-193dup
ENST00000697375.1:n.2040dup
ENST00000697376.1:c.-193dup	ENSP00000513285.1:n.-193dup
ENST00000697377.1:c.-193dup	ENSP00000513286.1:n.-193dup
ENST00000697378.1:n.1213dup
ENST00000697379.1:c.-193dup	ENSP00000513287.1:n.-193dup
ENST00000697382.1:c.-193dup	ENSP00000513288.1:n.-193dup
ENST00000697383.1:c.48+5257dup	ENSP00000513289.1:n.48+5257dup
ENST00000697384.1:n.847dup
ENST00000261584.9:c.693dup MANE Select	ENSP00000261584.4:p.Gly232ArgfsTer3
ENST00000261584.8:c.693dup	ENSP00000261584.4:p.Gly232ArgfsTer3
ENST00000565038.1:c.86+1997dup
ENST00000568219.5:c.-193dup	ENSP00000454703.2:n.-193dup
NM_024675.3:c.693dup , LRG_308t1:c.693dup	NP_078951.2:p.Gly232ArgfsTer3
XM_011545946.1:c.699dup	XP_011544248.1:p.Gly234ArgfsTer3
XM_011545947.1:c.699dup	XP_011544249.1:p.Gly234ArgfsTer3
XM_011545948.1:c.-193dup	XP_011544250.1:n.-193dup
XR_950851.1:n.1489dup
XM_011545946.2:c.699dup	XP_011544248.1:p.Gly234ArgfsTer3
XM_011545947.2:c.699dup	XP_011544249.1:p.Gly234ArgfsTer3
XM_011545948.2:c.-193dup	XP_011544250.1:n.-193dup
XM_017023671.1:c.699dup	XP_016879160.1:p.Gly234ArgfsTer3
XM_017023672.2:c.693dup	XP_016879161.1:p.Gly232ArgfsTer3
XM_017023673.2:c.693dup	XP_016879162.1:p.Gly232ArgfsTer3
NM_024675.4:c.693dup MANE Select	NP_078951.2:p.Gly232ArgfsTer3