Canonical Allele Identifier: CA2573152212

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1453547
• ClinVar RCV Id: RCV002002463
• dbSNP Id: rs2142374794

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629795dup , CM000678.2:g.23629795dup	GRCh38
NC_000016.9:g.23641116dup , CM000678.1:g.23641116dup	GRCh37
NC_000016.8:g.23548617dup	NCBI36
NG_007406.1:g.16563dup , LRG_308:g.16563dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2365dup	ENSP00000460666.3:p.Thr789AsnfsTer15
ENST00000565038.2:c.212-520dup	ENSP00000459882.2:n.212-520dup
ENST00000566069.6:c.2359dup	ENSP00000459237.2:p.Thr787AsnfsTer15
ENST00000697377.2:c.2365dup	ENSP00000513286.2:p.Thr789AsnfsTer15
ENST00000697379.2:c.2365dup	ENSP00000513287.2:p.Thr789AsnfsTer15
ENST00000561514.2:c.1474dup	ENSP00000460666.2:p.Thr492AsnfsTer15
ENST00000697374.1:c.1474dup	ENSP00000513284.1:p.Thr492AsnfsTer15
ENST00000697375.1:n.3706dup
ENST00000697376.1:c.1474dup	ENSP00000513285.1:p.Thr492AsnfsTer15
ENST00000697377.1:c.1474dup	ENSP00000513286.1:p.Thr492AsnfsTer15
ENST00000697378.1:n.2879dup
ENST00000697379.1:c.1474dup	ENSP00000513287.1:p.Thr492AsnfsTer15
ENST00000697380.1:n.1287dup
ENST00000697381.1:n.1054dup
ENST00000697382.1:c.1474dup	ENSP00000513288.1:p.Thr492AsnfsTer15
ENST00000697383.1:c.49-520dup	ENSP00000513289.1:n.49-520dup
ENST00000697384.1:n.2513dup
ENST00000261584.9:c.2359dup MANE Select	ENSP00000261584.4:p.Thr787AsnfsTer15
ENST00000261584.8:c.2359dup	ENSP00000261584.4:p.Thr787AsnfsTer15
ENST00000565038.1:c.87-520dup
ENST00000568219.5:c.1474dup	ENSP00000454703.2:p.Thr492AsnfsTer15
NM_024675.3:c.2359dup , LRG_308t1:c.2359dup	NP_078951.2:p.Thr787AsnfsTer15
XM_011545946.1:c.2365dup	XP_011544248.1:p.Thr789AsnfsTer15
XM_011545947.1:c.2365dup	XP_011544249.1:p.Thr789AsnfsTer15
XM_011545948.1:c.1474dup	XP_011544250.1:p.Thr492AsnfsTer15
XR_950851.1:n.3155dup
XM_011545946.2:c.2365dup	XP_011544248.1:p.Thr789AsnfsTer15
XM_011545947.2:c.2365dup	XP_011544249.1:p.Thr789AsnfsTer15
XM_011545948.2:c.1474dup	XP_011544250.1:p.Thr492AsnfsTer15
XM_017023671.1:c.2365dup	XP_016879160.1:p.Thr789AsnfsTer15
XM_017023672.2:c.2359dup	XP_016879161.1:p.Thr787AsnfsTer15
XM_017023673.2:c.2359dup	XP_016879162.1:p.Thr787AsnfsTer15
NM_024675.4:c.2359dup MANE Select	NP_078951.2:p.Thr787AsnfsTer15