Canonical Allele Identifier: CA2695197484

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674176
• ClinVar RCV Id: RCV003452372

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629890_23629893dup , CM000678.2:g.23629890_23629893dup	GRCh38
NC_000016.9:g.23641211_23641214dup , CM000678.1:g.23641211_23641214dup	GRCh37
NC_000016.8:g.23548712_23548715dup	NCBI36
NG_007406.1:g.16467_16470dup , LRG_308:g.16467_16470dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2269_2272dup	ENSP00000460666.3:p.Cys758LeufsTer18
ENST00000565038.2:c.212-616_212-613dup	ENSP00000459882.2:n.212-616_212-613dup
ENST00000566069.6:c.2263_2266dup	ENSP00000459237.2:p.Cys756LeufsTer18
ENST00000697377.2:c.2269_2272dup	ENSP00000513286.2:p.Cys758LeufsTer18
ENST00000697379.2:c.2269_2272dup	ENSP00000513287.2:p.Cys758LeufsTer18
ENST00000561514.2:c.1378_1381dup	ENSP00000460666.2:p.Cys461LeufsTer18
ENST00000697374.1:c.1378_1381dup	ENSP00000513284.1:p.Cys461LeufsTer18
ENST00000697375.1:n.3610_3613dup
ENST00000697376.1:c.1378_1381dup	ENSP00000513285.1:p.Cys461LeufsTer18
ENST00000697377.1:c.1378_1381dup	ENSP00000513286.1:p.Cys461LeufsTer18
ENST00000697378.1:n.2783_2786dup
ENST00000697379.1:c.1378_1381dup	ENSP00000513287.1:p.Cys461LeufsTer18
ENST00000697380.1:n.1191_1194dup
ENST00000697381.1:n.958_961dup
ENST00000697382.1:c.1378_1381dup	ENSP00000513288.1:p.Cys461LeufsTer18
ENST00000697383.1:c.49-616_49-613dup	ENSP00000513289.1:n.49-616_49-613dup
ENST00000697384.1:n.2417_2420dup
ENST00000261584.9:c.2263_2266dup MANE Select	ENSP00000261584.4:p.Cys756LeufsTer18
ENST00000261584.8:c.2263_2266dup	ENSP00000261584.4:p.Cys756LeufsTer18
ENST00000565038.1:c.87-616_87-613dup
ENST00000568219.5:c.1378_1381dup	ENSP00000454703.2:p.Cys461LeufsTer18
NM_024675.3:c.2263_2266dup , LRG_308t1:c.2263_2266dup	NP_078951.2:p.Cys756LeufsTer18
XM_011545946.1:c.2269_2272dup	XP_011544248.1:p.Cys758LeufsTer18
XM_011545947.1:c.2269_2272dup	XP_011544249.1:p.Cys758LeufsTer18
XM_011545948.1:c.1378_1381dup	XP_011544250.1:p.Cys461LeufsTer18
XR_950851.1:n.3059_3062dup
XM_011545946.2:c.2269_2272dup	XP_011544248.1:p.Cys758LeufsTer18
XM_011545947.2:c.2269_2272dup	XP_011544249.1:p.Cys758LeufsTer18
XM_011545948.2:c.1378_1381dup	XP_011544250.1:p.Cys461LeufsTer18
XM_017023671.1:c.2269_2272dup	XP_016879160.1:p.Cys758LeufsTer18
XM_017023672.2:c.2263_2266dup	XP_016879161.1:p.Cys756LeufsTer18
XM_017023673.2:c.2263_2266dup	XP_016879162.1:p.Cys756LeufsTer18
NM_024675.4:c.2263_2266dup MANE Select	NP_078951.2:p.Cys756LeufsTer18