Canonical Allele Identifier: CA2580612735

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2035723
• ClinVar RCV Id: RCV002877590

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630346_23630348dup , CM000678.2:g.23630346_23630348dup	GRCh38
NC_000016.9:g.23641667_23641669dup , CM000678.1:g.23641667_23641669dup	GRCh37
NC_000016.8:g.23549168_23549170dup	NCBI36
NG_007406.1:g.16013_16015dup , LRG_308:g.16013_16015dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1815_1817dup	ENSP00000460666.3:p.Leu606_Ser607insLeu
ENST00000565038.2:c.212-1070_212-1068dup	ENSP00000459882.2:n.212-1070_212-1068dup
ENST00000566069.6:c.1809_1811dup	ENSP00000459237.2:p.Leu604_Ser605insLeu
ENST00000697377.2:c.1815_1817dup	ENSP00000513286.2:p.Leu606_Ser607insLeu
ENST00000697379.2:c.1815_1817dup	ENSP00000513287.2:p.Leu606_Ser607insLeu
ENST00000561514.2:c.924_926dup	ENSP00000460666.2:p.Leu309_Ser310insLeu
ENST00000697374.1:c.924_926dup	ENSP00000513284.1:p.Leu309_Ser310insLeu
ENST00000697375.1:n.3156_3158dup
ENST00000697376.1:c.924_926dup	ENSP00000513285.1:p.Leu309_Ser310insLeu
ENST00000697377.1:c.924_926dup	ENSP00000513286.1:p.Leu309_Ser310insLeu
ENST00000697378.1:n.2329_2331dup
ENST00000697379.1:c.924_926dup	ENSP00000513287.1:p.Leu309_Ser310insLeu
ENST00000697380.1:n.737_739dup
ENST00000697381.1:n.504_506dup
ENST00000697382.1:c.924_926dup	ENSP00000513288.1:p.Leu309_Ser310insLeu
ENST00000697383.1:c.49-1070_49-1068dup	ENSP00000513289.1:n.49-1070_49-1068dup
ENST00000697384.1:n.1963_1965dup
ENST00000261584.9:c.1809_1811dup MANE Select	ENSP00000261584.4:p.Leu604_Ser605insLeu
ENST00000261584.8:c.1809_1811dup	ENSP00000261584.4:p.Leu604_Ser605insLeu
ENST00000565038.1:c.87-1070_87-1068dup
ENST00000568219.5:c.924_926dup	ENSP00000454703.2:p.Leu309_Ser310insLeu
NM_024675.3:c.1809_1811dup , LRG_308t1:c.1809_1811dup	NP_078951.2:p.Leu604_Ser605insLeu
XM_011545946.1:c.1815_1817dup	XP_011544248.1:p.Leu606_Ser607insLeu
XM_011545947.1:c.1815_1817dup	XP_011544249.1:p.Leu606_Ser607insLeu
XM_011545948.1:c.924_926dup	XP_011544250.1:p.Leu309_Ser310insLeu
XR_950851.1:n.2605_2607dup
XM_011545946.2:c.1815_1817dup	XP_011544248.1:p.Leu606_Ser607insLeu
XM_011545947.2:c.1815_1817dup	XP_011544249.1:p.Leu606_Ser607insLeu
XM_011545948.2:c.924_926dup	XP_011544250.1:p.Leu309_Ser310insLeu
XM_017023671.1:c.1815_1817dup	XP_016879160.1:p.Leu606_Ser607insLeu
XM_017023672.2:c.1809_1811dup	XP_016879161.1:p.Leu604_Ser605insLeu
XM_017023673.2:c.1809_1811dup	XP_016879162.1:p.Leu604_Ser605insLeu
NM_024675.4:c.1809_1811dup MANE Select	NP_078951.2:p.Leu604_Ser605insLeu