Canonical Allele Identifier: CA2695197470

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2673857
• ClinVar RCV Id: RCV003450474

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629760_23629772delinsGA , CM000678.2:g.23629760_23629772delinsGA	GRCh38
NC_000016.9:g.23641081_23641093delinsGA , CM000678.1:g.23641081_23641093delinsGA	GRCh37
NC_000016.8:g.23548582_23548594delinsGA	NCBI36
NG_007406.1:g.16586_16598delinsTC , LRG_308:g.16586_16598delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2388_2400delinsTC	ENSP00000460666.3:p.Arg796SerfsTer4
ENST00000565038.2:c.212-497_212-485delinsTC	ENSP00000459882.2:n.212-497_212-485delins...
ENST00000566069.6:c.2382_2394delinsTC	ENSP00000459237.2:p.Arg794SerfsTer4
ENST00000697377.2:c.2388_2400delinsTC	ENSP00000513286.2:p.Arg796SerfsTer4
ENST00000697379.2:c.2388_2400delinsTC	ENSP00000513287.2:p.Arg796SerfsTer4
ENST00000561514.2:c.1497_1509delinsTC	ENSP00000460666.2:p.Arg499SerfsTer4
ENST00000697374.1:c.1497_1509delinsTC	ENSP00000513284.1:p.Arg499SerfsTer4
ENST00000697375.1:n.3729_3741delinsTC
ENST00000697376.1:c.1497_1509delinsTC	ENSP00000513285.1:p.Arg499SerfsTer4
ENST00000697377.1:c.1497_1509delinsTC	ENSP00000513286.1:p.Arg499SerfsTer4
ENST00000697378.1:n.2902_2914delinsTC
ENST00000697379.1:c.1497_1509delinsTC	ENSP00000513287.1:p.Arg499SerfsTer4
ENST00000697380.1:n.1310_1322delinsTC
ENST00000697381.1:n.1077_1089delinsTC
ENST00000697382.1:c.1497_1509delinsTC	ENSP00000513288.1:p.Arg499SerfsTer4
ENST00000697383.1:c.49-497_49-485delinsTC	ENSP00000513289.1:n.49-497_49-485delinsTC...
ENST00000697384.1:n.2536_2548delinsTC
ENST00000261584.9:c.2382_2394delinsTC MANE Select	ENSP00000261584.4:p.Arg794SerfsTer4
ENST00000261584.8:c.2382_2394delinsTC	ENSP00000261584.4:p.Arg794SerfsTer4
ENST00000565038.1:c.87-497_87-485delinsTC
ENST00000568219.5:c.1497_1509delinsTC	ENSP00000454703.2:p.Arg499SerfsTer4
NM_024675.3:c.2382_2394delinsTC , LRG_308t1:c.2382_2394delinsTC	NP_078951.2:p.Arg794SerfsTer4
XM_011545946.1:c.2388_2400delinsTC	XP_011544248.1:p.Arg796SerfsTer4
XM_011545947.1:c.2388_2400delinsTC	XP_011544249.1:p.Arg796SerfsTer4
XM_011545948.1:c.1497_1509delinsTC	XP_011544250.1:p.Arg499SerfsTer4
XR_950851.1:n.3178_3190delinsTC
XM_011545946.2:c.2388_2400delinsTC	XP_011544248.1:p.Arg796SerfsTer4
XM_011545947.2:c.2388_2400delinsTC	XP_011544249.1:p.Arg796SerfsTer4
XM_011545948.2:c.1497_1509delinsTC	XP_011544250.1:p.Arg499SerfsTer4
XM_017023671.1:c.2388_2400delinsTC	XP_016879160.1:p.Arg796SerfsTer4
XM_017023672.2:c.2382_2394delinsTC	XP_016879161.1:p.Arg794SerfsTer4
XM_017023673.2:c.2382_2394delinsTC	XP_016879162.1:p.Arg794SerfsTer4
NM_024675.4:c.2382_2394delinsTC MANE Select	NP_078951.2:p.Arg794SerfsTer4