Canonical Allele Identifier: CA916081834

Gene: PALB2

Linked Data

• ClinVar Variation Id: 860261
• ClinVar RCV Id: RCV001066537
• dbSNP Id: rs1966856962

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629782_23629785del , CM000678.2:g.23629782_23629785del	GRCh38
NC_000016.9:g.23641103_23641106del , CM000678.1:g.23641103_23641106del	GRCh37
NC_000016.8:g.23548604_23548607del	NCBI36
NG_007406.1:g.16573_16576del , LRG_308:g.16573_16576del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2375_2378del	ENSP00000460666.3:p.Gln792ArgfsTer?
ENST00000565038.2:c.212-510_212-507del	ENSP00000459882.2:n.212-510_212-507del
ENST00000566069.6:c.2369_2372del	ENSP00000459237.2:p.Gln790ArgfsTer?
ENST00000697377.2:c.2375_2378del	ENSP00000513286.2:p.Gln792ArgfsTer?
ENST00000697379.2:c.2375_2378del	ENSP00000513287.2:p.Gln792ArgfsTer?
ENST00000561514.2:c.1484_1487del	ENSP00000460666.2:p.Gln495ArgfsTer?
ENST00000697374.1:c.1484_1487del	ENSP00000513284.1:p.Gln495ArgfsTer?
ENST00000697375.1:n.3716_3719del
ENST00000697376.1:c.1484_1487del	ENSP00000513285.1:p.Gln495ArgfsTer?
ENST00000697377.1:c.1484_1487del	ENSP00000513286.1:p.Gln495ArgfsTer?
ENST00000697378.1:n.2889_2892del
ENST00000697379.1:c.1484_1487del	ENSP00000513287.1:p.Gln495ArgfsTer?
ENST00000697380.1:n.1297_1300del
ENST00000697381.1:n.1064_1067del
ENST00000697382.1:c.1484_1487del	ENSP00000513288.1:p.Gln495ArgfsTer?
ENST00000697383.1:c.49-510_49-507del	ENSP00000513289.1:n.49-510_49-507del
ENST00000697384.1:n.2523_2526del
ENST00000261584.9:c.2369_2372del MANE Select	ENSP00000261584.4:p.Gln790ArgfsTer?
ENST00000261584.8:c.2369_2372del	ENSP00000261584.4:p.Gln790ArgfsTer?
ENST00000565038.1:c.87-510_87-507del
ENST00000568219.5:c.1484_1487del	ENSP00000454703.2:p.Gln495ArgfsTer?
NM_024675.3:c.2369_2372del , LRG_308t1:c.2369_2372del	NP_078951.2:p.Gln790ArgfsTer?
XM_011545946.1:c.2375_2378del	XP_011544248.1:p.Gln792ArgfsTer?
XM_011545947.1:c.2375_2378del	XP_011544249.1:p.Gln792ArgfsTer?
XM_011545948.1:c.1484_1487del	XP_011544250.1:p.Gln495ArgfsTer?
XR_950851.1:n.3165_3168del
XM_011545946.2:c.2375_2378del	XP_011544248.1:p.Gln792ArgfsTer?
XM_011545947.2:c.2375_2378del	XP_011544249.1:p.Gln792ArgfsTer?
XM_011545948.2:c.1484_1487del	XP_011544250.1:p.Gln495ArgfsTer?
XM_017023671.1:c.2375_2378del	XP_016879160.1:p.Gln792ArgfsTer?
XM_017023672.2:c.2369_2372del	XP_016879161.1:p.Gln790ArgfsTer?
XM_017023673.2:c.2369_2372del	XP_016879162.1:p.Gln790ArgfsTer?
NM_024675.4:c.2369_2372del MANE Select	NP_078951.2:p.Gln790ArgfsTer?