Canonical Allele Identifier: CA2695197600

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674122
• ClinVar RCV Id: RCV003452318

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623063_23623077delinsT , CM000678.2:g.23623063_23623077delinsT	GRCh38
NC_000016.9:g.23634384_23634398delinsT , CM000678.1:g.23634384_23634398delinsT	GRCh37
NC_000016.8:g.23541885_23541899delinsT	NCBI36
NG_007406.1:g.23281_23295delinsA , LRG_308:g.23281_23295delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2894_2908delinsA	ENSP00000460666.3:p.Ser965TyrfsTer12
ENST00000565038.2:c.*369_*383delinsA	ENSP00000459882.2:n.*369_*383delinsA
ENST00000566069.6:c.2888_2902delinsA	ENSP00000459237.2:p.Ser963TyrfsTer12
ENST00000697377.2:c.2732_2746delinsA	ENSP00000513286.2:p.Ser911TyrfsTer12
ENST00000697379.2:c.2894_2908delinsA	ENSP00000513287.2:p.Ser965TyrfsTer12
ENST00000561514.2:c.2003_2017delinsA	ENSP00000460666.2:p.Ser668TyrfsTer12
ENST00000697374.1:c.2003_2017delinsA	ENSP00000513284.1:p.Ser668TyrfsTer12
ENST00000697375.1:n.4235_4249delinsA
ENST00000697376.1:c.2003_2017delinsA	ENSP00000513285.1:p.Ser668TyrfsTer12
ENST00000697377.1:c.1841_1855delinsA	ENSP00000513286.1:p.Ser614TyrfsTer12
ENST00000697378.1:n.3408_3422delinsA
ENST00000697379.1:c.2003_2017delinsA	ENSP00000513287.1:p.Ser668TyrfsTer12
ENST00000697380.1:n.2180_2194delinsA
ENST00000697381.1:n.1583_1597delinsA
ENST00000697382.1:c.2003_2017delinsA	ENSP00000513288.1:p.Ser668TyrfsTer12
ENST00000697383.1:c.422_436delinsA	ENSP00000513289.1:p.Ser141TyrfsTer12
ENST00000261584.9:c.2888_2902delinsA MANE Select	ENSP00000261584.4:p.Ser963TyrfsTer12
ENST00000261584.8:c.2888_2902delinsA	ENSP00000261584.4:p.Ser963TyrfsTer12
ENST00000568219.5:c.2003_2017delinsA	ENSP00000454703.2:p.Ser668TyrfsTer12
NM_024675.3:c.2888_2902delinsA , LRG_308t1:c.2888_2902delinsA	NP_078951.2:p.Ser963TyrfsTer12
XM_011545946.1:c.2894_2908delinsA	XP_011544248.1:p.Ser965TyrfsTer12
XM_011545947.1:c.2894_2908delinsA	XP_011544249.1:p.Ser965TyrfsTer12
XM_011545948.1:c.2003_2017delinsA	XP_011544250.1:p.Ser668TyrfsTer12
XR_950851.1:n.3684_3698delinsA
XM_011545946.2:c.2894_2908delinsA	XP_011544248.1:p.Ser965TyrfsTer12
XM_011545947.2:c.2894_2908delinsA	XP_011544249.1:p.Ser965TyrfsTer12
XM_011545948.2:c.2003_2017delinsA	XP_011544250.1:p.Ser668TyrfsTer12
XM_017023671.1:c.2894_2908delinsA	XP_016879160.1:p.Ser965TyrfsTer12
XM_017023672.2:c.2888_2902delinsA	XP_016879161.1:p.Ser963TyrfsTer12
XM_017023673.2:c.2888_2902delinsA	XP_016879162.1:p.Ser963TyrfsTer12
NM_024675.4:c.2888_2902delinsA MANE Select	NP_078951.2:p.Ser963TyrfsTer12