Canonical Allele Identifier: CA1139664620

Gene: PALB2

Linked Data

• ClinVar Variation Id: 960195
• ClinVar RCV Id: RCV002327561
• dbSNP Id: rs1966988658

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635380dup , CM000678.2:g.23635380dup	GRCh38
NC_000016.9:g.23646701dup , CM000678.1:g.23646701dup	GRCh37
NC_000016.8:g.23554202dup	NCBI36
NG_007406.1:g.10980dup , LRG_308:g.10980dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1174dup	ENSP00000460666.3:p.Ser392PhefsTer11
ENST00000565038.2:c.211+2472dup	ENSP00000459882.2:n.211+2472dup
ENST00000566069.6:c.1168dup	ENSP00000459237.2:p.Ser390PhefsTer11
ENST00000697377.2:c.1174dup	ENSP00000513286.2:p.Ser392PhefsTer11
ENST00000697379.2:c.1174dup	ENSP00000513287.2:p.Ser392PhefsTer11
ENST00000561514.2:c.283dup	ENSP00000460666.2:p.Ser95PhefsTer11
ENST00000697374.1:c.283dup	ENSP00000513284.1:p.Ser95PhefsTer11
ENST00000697375.1:n.2515dup
ENST00000697376.1:c.283dup	ENSP00000513285.1:p.Ser95PhefsTer11
ENST00000697377.1:c.283dup	ENSP00000513286.1:p.Ser95PhefsTer11
ENST00000697378.1:n.1688dup
ENST00000697379.1:c.283dup	ENSP00000513287.1:p.Ser95PhefsTer11
ENST00000697382.1:c.283dup	ENSP00000513288.1:p.Ser95PhefsTer11
ENST00000697383.1:c.48+5732dup	ENSP00000513289.1:n.48+5732dup
ENST00000697384.1:n.1322dup
ENST00000261584.9:c.1168dup MANE Select	ENSP00000261584.4:p.Ser390PhefsTer11
ENST00000261584.8:c.1168dup	ENSP00000261584.4:p.Ser390PhefsTer11
ENST00000565038.1:c.86+2472dup
ENST00000568219.5:c.283dup	ENSP00000454703.2:p.Ser95PhefsTer11
NM_024675.3:c.1168dup , LRG_308t1:c.1168dup	NP_078951.2:p.Ser390PhefsTer11
XM_011545946.1:c.1174dup	XP_011544248.1:p.Ser392PhefsTer11
XM_011545947.1:c.1174dup	XP_011544249.1:p.Ser392PhefsTer11
XM_011545948.1:c.283dup	XP_011544250.1:p.Ser95PhefsTer11
XR_950851.1:n.1964dup
XM_011545946.2:c.1174dup	XP_011544248.1:p.Ser392PhefsTer11
XM_011545947.2:c.1174dup	XP_011544249.1:p.Ser392PhefsTer11
XM_011545948.2:c.283dup	XP_011544250.1:p.Ser95PhefsTer11
XM_017023671.1:c.1174dup	XP_016879160.1:p.Ser392PhefsTer11
XM_017023672.2:c.1168dup	XP_016879161.1:p.Ser390PhefsTer11
XM_017023673.2:c.1168dup	XP_016879162.1:p.Ser390PhefsTer11
NM_024675.4:c.1168dup MANE Select	NP_078951.2:p.Ser390PhefsTer11