Canonical Allele Identifier: CA2499223425

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1074414
• ClinVar RCV Id: RCV001387688
• dbSNP Id: rs2142374295

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629771_23629772delinsAA , CM000678.2:g.23629771_23629772delinsAA	GRCh38
NC_000016.9:g.23641092_23641093delinsAA , CM000678.1:g.23641092_23641093delinsAA	GRCh37
NC_000016.8:g.23548593_23548594delinsAA	NCBI36
NG_007406.1:g.16586_16587delinsTT , LRG_308:g.16586_16587delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2388_2389delinsTT	ENSP00000460666.3:p.Arg796SerfsTer2
ENST00000565038.2:c.212-497_212-496delinsTT	ENSP00000459882.2:n.212-497_212-496delins...
ENST00000566069.6:c.2382_2383delinsTT	ENSP00000459237.2:p.Arg794SerfsTer2
ENST00000697377.2:c.2388_2389delinsTT	ENSP00000513286.2:p.Arg796SerfsTer2
ENST00000697379.2:c.2388_2389delinsTT	ENSP00000513287.2:p.Arg796SerfsTer2
ENST00000561514.2:c.1497_1498delinsTT	ENSP00000460666.2:p.Arg499SerfsTer2
ENST00000697374.1:c.1497_1498delinsTT	ENSP00000513284.1:p.Arg499SerfsTer2
ENST00000697375.1:n.3729_3730delinsTT
ENST00000697376.1:c.1497_1498delinsTT	ENSP00000513285.1:p.Arg499SerfsTer2
ENST00000697377.1:c.1497_1498delinsTT	ENSP00000513286.1:p.Arg499SerfsTer2
ENST00000697378.1:n.2902_2903delinsTT
ENST00000697379.1:c.1497_1498delinsTT	ENSP00000513287.1:p.Arg499SerfsTer2
ENST00000697380.1:n.1310_1311delinsTT
ENST00000697381.1:n.1077_1078delinsTT
ENST00000697382.1:c.1497_1498delinsTT	ENSP00000513288.1:p.Arg499SerfsTer2
ENST00000697383.1:c.49-497_49-496delinsTT	ENSP00000513289.1:n.49-497_49-496delinsTT...
ENST00000697384.1:n.2536_2537delinsTT
ENST00000261584.9:c.2382_2383delinsTT MANE Select	ENSP00000261584.4:p.Arg794SerfsTer2
ENST00000261584.8:c.2382_2383delinsTT	ENSP00000261584.4:p.Arg794SerfsTer2
ENST00000565038.1:c.87-497_87-496delinsTT
ENST00000568219.5:c.1497_1498delinsTT	ENSP00000454703.2:p.Arg499SerfsTer2
NM_024675.3:c.2382_2383delinsTT , LRG_308t1:c.2382_2383delinsTT	NP_078951.2:p.Arg794SerfsTer2
XM_011545946.1:c.2388_2389delinsTT	XP_011544248.1:p.Arg796SerfsTer2
XM_011545947.1:c.2388_2389delinsTT	XP_011544249.1:p.Arg796SerfsTer2
XM_011545948.1:c.1497_1498delinsTT	XP_011544250.1:p.Arg499SerfsTer2
XR_950851.1:n.3178_3179delinsTT
XM_011545946.2:c.2388_2389delinsTT	XP_011544248.1:p.Arg796SerfsTer2
XM_011545947.2:c.2388_2389delinsTT	XP_011544249.1:p.Arg796SerfsTer2
XM_011545948.2:c.1497_1498delinsTT	XP_011544250.1:p.Arg499SerfsTer2
XM_017023671.1:c.2388_2389delinsTT	XP_016879160.1:p.Arg796SerfsTer2
XM_017023672.2:c.2382_2383delinsTT	XP_016879161.1:p.Arg794SerfsTer2
XM_017023673.2:c.2382_2383delinsTT	XP_016879162.1:p.Arg794SerfsTer2
NM_024675.4:c.2382_2383delinsTT MANE Select	NP_078951.2:p.Arg794SerfsTer2