Canonical Allele Identifier: CA10584508

Gene: PALB2

Linked Data

• ClinVar Variation Id: 245892
• ClinVar RCV Id: RCV000236132
• dbSNP Id: rs879253986
• MyVariant Identifiers: chr16:g.23634325dupT (hg19) ; chr16:g.23634324_23634325insT (hg19) ; chr16:g.23623004dupT (hg38) ; chr16:g.23623003_23623004insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623005dup , CM000678.2:g.23623005dup	GRCh38
NC_000016.9:g.23634326dup , CM000678.1:g.23634326dup	GRCh37
NC_000016.8:g.23541827dup	NCBI36
NG_007406.1:g.23354dup , LRG_308:g.23354dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2967dup	ENSP00000460666.3:p.Gln990ThrfsTer23
ENST00000565038.2:c.*442dup	ENSP00000459882.2:n.*442dup
ENST00000566069.6:c.2961dup	ENSP00000459237.2:p.Gln988ThrfsTer23
ENST00000697377.2:c.2805dup	ENSP00000513286.2:p.Gln936ThrfsTer23
ENST00000697379.2:c.2967dup	ENSP00000513287.2:p.Gln990ThrfsTer23
ENST00000561514.2:c.2076dup	ENSP00000460666.2:p.Gln693ThrfsTer23
ENST00000697374.1:c.2076dup	ENSP00000513284.1:p.Gln693ThrfsTer23
ENST00000697375.1:n.4308dup
ENST00000697376.1:c.2076dup	ENSP00000513285.1:p.Gln693ThrfsTer23
ENST00000697377.1:c.1914dup	ENSP00000513286.1:p.Gln639ThrfsTer23
ENST00000697378.1:n.3481dup
ENST00000697379.1:c.2076dup	ENSP00000513287.1:p.Gln693ThrfsTer23
ENST00000697380.1:n.2253dup
ENST00000697381.1:n.1656dup
ENST00000697382.1:c.2076dup	ENSP00000513288.1:p.Gln693ThrfsTer23
ENST00000697383.1:c.495dup	ENSP00000513289.1:p.Gln166ThrfsTer23
ENST00000261584.9:c.2961dup MANE Select	ENSP00000261584.4:p.Gln988ThrfsTer23
ENST00000261584.8:c.2961dup	ENSP00000261584.4:p.Gln988ThrfsTer23
ENST00000568219.5:c.2076dup	ENSP00000454703.2:p.Gln693ThrfsTer23
NM_024675.3:c.2961dup , LRG_308t1:c.2961dup	NP_078951.2:p.Gln988ThrfsTer23
XM_011545946.1:c.2967dup	XP_011544248.1:p.Gln990ThrfsTer23
XM_011545947.1:c.2967dup	XP_011544249.1:p.Gln990ThrfsTer23
XM_011545948.1:c.2076dup	XP_011544250.1:p.Gln693ThrfsTer23
XR_950851.1:n.3757dup
XM_011545946.2:c.2967dup	XP_011544248.1:p.Gln990ThrfsTer23
XM_011545947.2:c.2967dup	XP_011544249.1:p.Gln990ThrfsTer23
XM_011545948.2:c.2076dup	XP_011544250.1:p.Gln693ThrfsTer23
XM_017023671.1:c.2967dup	XP_016879160.1:p.Gln990ThrfsTer23
XM_017023672.2:c.2961dup	XP_016879161.1:p.Gln988ThrfsTer23
XM_017023673.2:c.2961dup	XP_016879162.1:p.Gln988ThrfsTer23
NM_024675.4:c.2961dup MANE Select	NP_078951.2:p.Gln988ThrfsTer23