Canonical Allele Identifier: CA916081805

Gene: PALB2

Linked Data

• ClinVar Variation Id: 830200
• ClinVar RCV Id: RCV001030402
• dbSNP Id: rs1966510490

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607959dup , CM000678.2:g.23607959dup	GRCh38
NC_000016.9:g.23619280dup , CM000678.1:g.23619280dup	GRCh37
NC_000016.8:g.23526781dup	NCBI36
NG_007406.1:g.38399dup , LRG_308:g.38399dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3261dup	ENSP00000460666.3:p.Arg1088AlafsTer11
ENST00000565038.2:c.*736dup	ENSP00000459882.2:n.*736dup
ENST00000566069.6:c.3202-4290dup	ENSP00000459237.2:n.3202-4290dup
ENST00000697377.2:c.3099dup	ENSP00000513286.2:p.Arg1034AlafsTer11
ENST00000697379.2:c.3261dup	ENSP00000513287.2:p.Arg1088AlafsTer11
ENST00000561514.2:c.2370dup	ENSP00000460666.2:p.Arg791AlafsTer11
ENST00000697374.1:c.2370dup	ENSP00000513284.1:p.Arg791AlafsTer11
ENST00000697375.1:n.4602dup
ENST00000697376.1:c.2317-4290dup	ENSP00000513285.1:n.2317-4290dup
ENST00000697377.1:c.2208dup	ENSP00000513286.1:p.Arg737AlafsTer11
ENST00000697378.1:n.3775dup
ENST00000697379.1:c.2370dup	ENSP00000513287.1:p.Arg791AlafsTer11
ENST00000697380.1:n.2459dup
ENST00000697381.1:n.1950dup
ENST00000697382.1:c.*32dup	ENSP00000513288.1:n.*32dup
ENST00000697383.1:c.789dup	ENSP00000513289.1:p.Arg264AlafsTer11
ENST00000261584.9:c.3255dup MANE Select	ENSP00000261584.4:p.Arg1086AlafsTer11
ENST00000261584.8:c.3255dup	ENSP00000261584.4:p.Arg1086AlafsTer11
ENST00000566069.5:c.117-4290dup
ENST00000568219.5:c.2370dup	ENSP00000454703.2:p.Arg791AlafsTer11
NM_024675.3:c.3255dup , LRG_308t1:c.3255dup	NP_078951.2:p.Arg1086AlafsTer11
XM_011545946.1:c.3261dup	XP_011544248.1:p.Arg1088AlafsTer11
XM_011545947.1:c.3208-4290dup	XP_011544249.1:n.3208-4290dup
XM_011545948.1:c.2370dup	XP_011544250.1:p.Arg791AlafsTer11
XR_950851.1:n.3963dup
XM_011545946.2:c.3261dup	XP_011544248.1:p.Arg1088AlafsTer11
XM_011545947.2:c.3208-4290dup	XP_011544249.1:n.3208-4290dup
XM_011545948.2:c.2370dup	XP_011544250.1:p.Arg791AlafsTer11
XM_017023671.1:c.3120-4290dup	XP_016879160.1:n.3120-4290dup
XM_017023672.2:c.3114-4290dup	XP_016879161.1:n.3114-4290dup
XM_017023673.2:c.3202-4290dup	XP_016879162.1:n.3202-4290dup
NM_024675.4:c.3255dup MANE Select	NP_078951.2:p.Arg1086AlafsTer11