Canonical Allele Identifier: CA2580613441

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2573823
• ClinVar RCV Id: RCV003318159 ; RCV003500835

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614013dup , CM000678.2:g.23614013dup	GRCh38
NC_000016.9:g.23625334dup , CM000678.1:g.23625334dup	GRCh37
NC_000016.8:g.23532835dup	NCBI36
NG_007406.1:g.32346dup , LRG_308:g.32346dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3199dup	ENSP00000460666.3:p.Ser1067PhefsTer2
ENST00000565038.2:c.*674dup	ENSP00000459882.2:n.*674dup
ENST00000566069.6:c.3193dup	ENSP00000459237.2:p.Ser1065PhefsTer2
ENST00000697377.2:c.3037dup	ENSP00000513286.2:p.Ser1013PhefsTer2
ENST00000697379.2:c.3199dup	ENSP00000513287.2:p.Ser1067PhefsTer2
ENST00000561514.2:c.2308dup	ENSP00000460666.2:p.Ser770PhefsTer2
ENST00000697374.1:c.2308dup	ENSP00000513284.1:p.Ser770PhefsTer2
ENST00000697375.1:n.4540dup
ENST00000697376.1:c.2308dup	ENSP00000513285.1:p.Ser770PhefsTer2
ENST00000697377.1:c.2146dup	ENSP00000513286.1:p.Ser716PhefsTer2
ENST00000697378.1:n.3713dup
ENST00000697379.1:c.2308dup	ENSP00000513287.1:p.Ser770PhefsTer2
ENST00000697380.1:n.2406-6000dup
ENST00000697381.1:n.1888dup
ENST00000697382.1:c.2229-6000dup	ENSP00000513288.1:n.2229-6000dup
ENST00000697383.1:c.727dup	ENSP00000513289.1:p.Ser243PhefsTer2
ENST00000261584.9:c.3193dup MANE Select	ENSP00000261584.4:p.Ser1065PhefsTer2
ENST00000261584.8:c.3193dup	ENSP00000261584.4:p.Ser1065PhefsTer2
ENST00000566069.5:c.108dup
ENST00000568219.5:c.2308dup	ENSP00000454703.2:p.Ser770PhefsTer2
NM_024675.3:c.3193dup , LRG_308t1:c.3193dup	NP_078951.2:p.Ser1065PhefsTer2
XM_011545946.1:c.3199dup	XP_011544248.1:p.Ser1067PhefsTer2
XM_011545947.1:c.3199dup	XP_011544249.1:p.Ser1067PhefsTer2
XM_011545948.1:c.2308dup	XP_011544250.1:p.Ser770PhefsTer2
XR_950851.1:n.3910-6000dup
XM_011545946.2:c.3199dup	XP_011544248.1:p.Ser1067PhefsTer2
XM_011545947.2:c.3199dup	XP_011544249.1:p.Ser1067PhefsTer2
XM_011545948.2:c.2308dup	XP_011544250.1:p.Ser770PhefsTer2
XM_017023671.1:c.3119+7350dup	XP_016879160.1:n.3119+7350dup
XM_017023672.2:c.3113+7350dup	XP_016879161.1:n.3113+7350dup
XM_017023673.2:c.3193dup	XP_016879162.1:p.Ser1065PhefsTer2
NM_024675.4:c.3193dup MANE Select	NP_078951.2:p.Ser1065PhefsTer2