Canonical Allele Identifier: CA16614812

Gene: PALB2

Linked Data

• ClinVar Variation Id: 410207
• ClinVar RCV Id: RCV000465905 ; RCV000775816
• dbSNP Id: rs1555458828
• MyVariant Identifiers: chr16:g.23625402dupT (hg19) ; chr16:g.23625401_23625402insT (hg19) ; chr16:g.23614081dupT (hg38) ; chr16:g.23614080_23614081insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614085dup , CM000678.2:g.23614085dup	GRCh38
NC_000016.9:g.23625406dup , CM000678.1:g.23625406dup	GRCh37
NC_000016.8:g.23532907dup	NCBI36
NG_007406.1:g.32277dup , LRG_308:g.32277dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3130dup	ENSP00000460666.3:p.Thr1044AsnfsTer11
ENST00000565038.2:c.*605dup	ENSP00000459882.2:n.*605dup
ENST00000566069.6:c.3124dup	ENSP00000459237.2:p.Thr1042AsnfsTer11
ENST00000697377.2:c.2968dup	ENSP00000513286.2:p.Thr990AsnfsTer11
ENST00000697379.2:c.3130dup	ENSP00000513287.2:p.Thr1044AsnfsTer11
ENST00000561514.2:c.2239dup	ENSP00000460666.2:p.Thr747AsnfsTer11
ENST00000697374.1:c.2239dup	ENSP00000513284.1:p.Thr747AsnfsTer11
ENST00000697375.1:n.4471dup
ENST00000697376.1:c.2239dup	ENSP00000513285.1:p.Thr747AsnfsTer11
ENST00000697377.1:c.2077dup	ENSP00000513286.1:p.Thr693AsnfsTer11
ENST00000697378.1:n.3644dup
ENST00000697379.1:c.2239dup	ENSP00000513287.1:p.Thr747AsnfsTer11
ENST00000697380.1:n.2406-6069dup
ENST00000697381.1:n.1819dup
ENST00000697382.1:c.2229-6069dup	ENSP00000513288.1:n.2229-6069dup
ENST00000697383.1:c.658dup	ENSP00000513289.1:p.Thr220AsnfsTer11
ENST00000261584.9:c.3124dup MANE Select	ENSP00000261584.4:p.Thr1042AsnfsTer11
ENST00000261584.8:c.3124dup	ENSP00000261584.4:p.Thr1042AsnfsTer11
ENST00000566069.5:c.39dup
ENST00000568219.5:c.2239dup	ENSP00000454703.2:p.Thr747AsnfsTer11
NM_024675.3:c.3124dup , LRG_308t1:c.3124dup	NP_078951.2:p.Thr1042AsnfsTer11
XM_011545946.1:c.3130dup	XP_011544248.1:p.Thr1044AsnfsTer11
XM_011545947.1:c.3130dup	XP_011544249.1:p.Thr1044AsnfsTer11
XM_011545948.1:c.2239dup	XP_011544250.1:p.Thr747AsnfsTer11
XR_950851.1:n.3910-6069dup
XM_011545946.2:c.3130dup	XP_011544248.1:p.Thr1044AsnfsTer11
XM_011545947.2:c.3130dup	XP_011544249.1:p.Thr1044AsnfsTer11
XM_011545948.2:c.2239dup	XP_011544250.1:p.Thr747AsnfsTer11
XM_017023671.1:c.3119+7281dup	XP_016879160.1:n.3119+7281dup
XM_017023672.2:c.3113+7281dup	XP_016879161.1:n.3113+7281dup
XM_017023673.2:c.3124dup	XP_016879162.1:p.Thr1042AsnfsTer11
NM_024675.4:c.3124dup MANE Select	NP_078951.2:p.Thr1042AsnfsTer11