Canonical Allele Identifier: CA2697555727

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2747647
• ClinVar RCV Id: RCV003501967

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635094_23635097dup , CM000678.2:g.23635094_23635097dup	GRCh38
NC_000016.9:g.23646415_23646418dup , CM000678.1:g.23646415_23646418dup	GRCh37
NC_000016.8:g.23553916_23553919dup	NCBI36
NG_007406.1:g.11262_11265dup , LRG_308:g.11262_11265dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1456_1459dup	ENSP00000460666.3:p.Thr487IlefsTer3
ENST00000565038.2:c.211+2754_211+2757dup	ENSP00000459882.2:n.211+2754_211+2757dup
ENST00000566069.6:c.1450_1453dup	ENSP00000459237.2:p.Thr485IlefsTer3
ENST00000697377.2:c.1456_1459dup	ENSP00000513286.2:p.Thr487IlefsTer3
ENST00000697379.2:c.1456_1459dup	ENSP00000513287.2:p.Thr487IlefsTer3
ENST00000561514.2:c.565_568dup	ENSP00000460666.2:p.Thr190IlefsTer3
ENST00000697374.1:c.565_568dup	ENSP00000513284.1:p.Thr190IlefsTer3
ENST00000697375.1:n.2797_2800dup
ENST00000697376.1:c.565_568dup	ENSP00000513285.1:p.Thr190IlefsTer3
ENST00000697377.1:c.565_568dup	ENSP00000513286.1:p.Thr190IlefsTer3
ENST00000697378.1:n.1970_1973dup
ENST00000697379.1:c.565_568dup	ENSP00000513287.1:p.Thr190IlefsTer3
ENST00000697382.1:c.565_568dup	ENSP00000513288.1:p.Thr190IlefsTer3
ENST00000697383.1:c.49-5821_49-5818dup	ENSP00000513289.1:n.49-5821_49-5818dup
ENST00000697384.1:n.1604_1607dup
ENST00000261584.9:c.1450_1453dup MANE Select	ENSP00000261584.4:p.Thr485IlefsTer3
ENST00000261584.8:c.1450_1453dup	ENSP00000261584.4:p.Thr485IlefsTer3
ENST00000565038.1:c.86+2754_86+2757dup
ENST00000568219.5:c.565_568dup	ENSP00000454703.2:p.Thr190IlefsTer3
NM_024675.3:c.1450_1453dup , LRG_308t1:c.1450_1453dup	NP_078951.2:p.Thr485IlefsTer3
XM_011545946.1:c.1456_1459dup	XP_011544248.1:p.Thr487IlefsTer3
XM_011545947.1:c.1456_1459dup	XP_011544249.1:p.Thr487IlefsTer3
XM_011545948.1:c.565_568dup	XP_011544250.1:p.Thr190IlefsTer3
XR_950851.1:n.2246_2249dup
XM_011545946.2:c.1456_1459dup	XP_011544248.1:p.Thr487IlefsTer3
XM_011545947.2:c.1456_1459dup	XP_011544249.1:p.Thr487IlefsTer3
XM_011545948.2:c.565_568dup	XP_011544250.1:p.Thr190IlefsTer3
XM_017023671.1:c.1456_1459dup	XP_016879160.1:p.Thr487IlefsTer3
XM_017023672.2:c.1450_1453dup	XP_016879161.1:p.Thr485IlefsTer3
XM_017023673.2:c.1450_1453dup	XP_016879162.1:p.Thr485IlefsTer3
NM_024675.4:c.1450_1453dup MANE Select	NP_078951.2:p.Thr485IlefsTer3