Canonical Allele Identifier: CA1139664594

Gene: PALB2

Linked Data

• ClinVar Variation Id: 965115
• ClinVar RCV Id: RCV001239480
• dbSNP Id: rs1966861838

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630135del , CM000678.2:g.23630135del	GRCh38
NC_000016.9:g.23641456del , CM000678.1:g.23641456del	GRCh37
NC_000016.8:g.23548957del	NCBI36
NG_007406.1:g.16224del , LRG_308:g.16224del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2026del	ENSP00000460666.3:p.Asp676ThrfsTer?
ENST00000565038.2:c.212-859del	ENSP00000459882.2:n.212-859del
ENST00000566069.6:c.2020del	ENSP00000459237.2:p.Asp674ThrfsTer?
ENST00000697377.2:c.2026del	ENSP00000513286.2:p.Asp676ThrfsTer?
ENST00000697379.2:c.2026del	ENSP00000513287.2:p.Asp676ThrfsTer?
ENST00000561514.2:c.1135del	ENSP00000460666.2:p.Asp379ThrfsTer?
ENST00000697374.1:c.1135del	ENSP00000513284.1:p.Asp379ThrfsTer?
ENST00000697375.1:n.3367del
ENST00000697376.1:c.1135del	ENSP00000513285.1:p.Asp379ThrfsTer?
ENST00000697377.1:c.1135del	ENSP00000513286.1:p.Asp379ThrfsTer?
ENST00000697378.1:n.2540del
ENST00000697379.1:c.1135del	ENSP00000513287.1:p.Asp379ThrfsTer?
ENST00000697380.1:n.948del
ENST00000697381.1:n.715del
ENST00000697382.1:c.1135del	ENSP00000513288.1:p.Asp379ThrfsTer?
ENST00000697383.1:c.49-859del	ENSP00000513289.1:n.49-859del
ENST00000697384.1:n.2174del
ENST00000261584.9:c.2020del MANE Select	ENSP00000261584.4:p.Asp674ThrfsTer?
ENST00000261584.8:c.2020del	ENSP00000261584.4:p.Asp674ThrfsTer?
ENST00000565038.1:c.87-859del
ENST00000568219.5:c.1135del	ENSP00000454703.2:p.Asp379ThrfsTer?
NM_024675.3:c.2020del , LRG_308t1:c.2020del	NP_078951.2:p.Asp674ThrfsTer?
XM_011545946.1:c.2026del	XP_011544248.1:p.Asp676ThrfsTer?
XM_011545947.1:c.2026del	XP_011544249.1:p.Asp676ThrfsTer?
XM_011545948.1:c.1135del	XP_011544250.1:p.Asp379ThrfsTer?
XR_950851.1:n.2816del
XM_011545946.2:c.2026del	XP_011544248.1:p.Asp676ThrfsTer?
XM_011545947.2:c.2026del	XP_011544249.1:p.Asp676ThrfsTer?
XM_011545948.2:c.1135del	XP_011544250.1:p.Asp379ThrfsTer?
XM_017023671.1:c.2026del	XP_016879160.1:p.Asp676ThrfsTer?
XM_017023672.2:c.2020del	XP_016879161.1:p.Asp674ThrfsTer?
XM_017023673.2:c.2020del	XP_016879162.1:p.Asp674ThrfsTer?
NM_024675.4:c.2020del MANE Select	NP_078951.2:p.Asp674ThrfsTer?