Canonical Allele Identifier: CA2499223430

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1074896
• ClinVar RCV Id: RCV001388341
• dbSNP Id: rs2142383242

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630133_23630134del , CM000678.2:g.23630133_23630134del	GRCh38
NC_000016.9:g.23641454_23641455del , CM000678.1:g.23641454_23641455del	GRCh37
NC_000016.8:g.23548955_23548956del	NCBI36
NG_007406.1:g.16224_16225del , LRG_308:g.16224_16225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2026_2027del	ENSP00000460666.3:p.Asp676ProfsTer?
ENST00000565038.2:c.212-859_212-858del	ENSP00000459882.2:n.212-859_212-858del
ENST00000566069.6:c.2020_2021del	ENSP00000459237.2:p.Asp674ProfsTer?
ENST00000697377.2:c.2026_2027del	ENSP00000513286.2:p.Asp676ProfsTer?
ENST00000697379.2:c.2026_2027del	ENSP00000513287.2:p.Asp676ProfsTer?
ENST00000561514.2:c.1135_1136del	ENSP00000460666.2:p.Asp379ProfsTer?
ENST00000697374.1:c.1135_1136del	ENSP00000513284.1:p.Asp379ProfsTer?
ENST00000697375.1:n.3367_3368del
ENST00000697376.1:c.1135_1136del	ENSP00000513285.1:p.Asp379ProfsTer?
ENST00000697377.1:c.1135_1136del	ENSP00000513286.1:p.Asp379ProfsTer?
ENST00000697378.1:n.2540_2541del
ENST00000697379.1:c.1135_1136del	ENSP00000513287.1:p.Asp379ProfsTer?
ENST00000697380.1:n.948_949del
ENST00000697381.1:n.715_716del
ENST00000697382.1:c.1135_1136del	ENSP00000513288.1:p.Asp379ProfsTer?
ENST00000697383.1:c.49-859_49-858del	ENSP00000513289.1:n.49-859_49-858del
ENST00000697384.1:n.2174_2175del
ENST00000261584.9:c.2020_2021del MANE Select	ENSP00000261584.4:p.Asp674ProfsTer?
ENST00000261584.8:c.2020_2021del	ENSP00000261584.4:p.Asp674ProfsTer?
ENST00000565038.1:c.87-859_87-858del
ENST00000568219.5:c.1135_1136del	ENSP00000454703.2:p.Asp379ProfsTer?
NM_024675.3:c.2020_2021del , LRG_308t1:c.2020_2021del	NP_078951.2:p.Asp674ProfsTer?
XM_011545946.1:c.2026_2027del	XP_011544248.1:p.Asp676ProfsTer?
XM_011545947.1:c.2026_2027del	XP_011544249.1:p.Asp676ProfsTer?
XM_011545948.1:c.1135_1136del	XP_011544250.1:p.Asp379ProfsTer?
XR_950851.1:n.2816_2817del
XM_011545946.2:c.2026_2027del	XP_011544248.1:p.Asp676ProfsTer?
XM_011545947.2:c.2026_2027del	XP_011544249.1:p.Asp676ProfsTer?
XM_011545948.2:c.1135_1136del	XP_011544250.1:p.Asp379ProfsTer?
XM_017023671.1:c.2026_2027del	XP_016879160.1:p.Asp676ProfsTer?
XM_017023672.2:c.2020_2021del	XP_016879161.1:p.Asp674ProfsTer?
XM_017023673.2:c.2020_2021del	XP_016879162.1:p.Asp674ProfsTer?
NM_024675.4:c.2020_2021del MANE Select	NP_078951.2:p.Asp674ProfsTer?