Canonical Allele Identifier: CA2580612745

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2573289
• ClinVar RCV Id: RCV003316978

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635113_23635129del , CM000678.2:g.23635113_23635129del	GRCh38
NC_000016.9:g.23646434_23646450del , CM000678.1:g.23646434_23646450del	GRCh37
NC_000016.8:g.23553935_23553951del	NCBI36
NG_007406.1:g.11229_11245del , LRG_308:g.11229_11245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1423_1439del	ENSP00000460666.3:p.Pro475SerfsTer8
ENST00000565038.2:c.211+2721_211+2737del	ENSP00000459882.2:n.211+2721_211+2737del
ENST00000566069.6:c.1417_1433del	ENSP00000459237.2:p.Pro473SerfsTer8
ENST00000697377.2:c.1423_1439del	ENSP00000513286.2:p.Pro475SerfsTer8
ENST00000697379.2:c.1423_1439del	ENSP00000513287.2:p.Pro475SerfsTer8
ENST00000561514.2:c.532_548del	ENSP00000460666.2:p.Pro178SerfsTer8
ENST00000697374.1:c.532_548del	ENSP00000513284.1:p.Pro178SerfsTer8
ENST00000697375.1:n.2764_2780del
ENST00000697376.1:c.532_548del	ENSP00000513285.1:p.Pro178SerfsTer8
ENST00000697377.1:c.532_548del	ENSP00000513286.1:p.Pro178SerfsTer8
ENST00000697378.1:n.1937_1953del
ENST00000697379.1:c.532_548del	ENSP00000513287.1:p.Pro178SerfsTer8
ENST00000697382.1:c.532_548del	ENSP00000513288.1:p.Pro178SerfsTer8
ENST00000697383.1:c.49-5854_49-5838del	ENSP00000513289.1:n.49-5854_49-5838del
ENST00000697384.1:n.1571_1587del
ENST00000261584.9:c.1417_1433del MANE Select	ENSP00000261584.4:p.Pro473SerfsTer8
ENST00000261584.8:c.1417_1433del	ENSP00000261584.4:p.Pro473SerfsTer8
ENST00000565038.1:c.86+2721_86+2737del
ENST00000568219.5:c.532_548del	ENSP00000454703.2:p.Pro178SerfsTer8
NM_024675.3:c.1417_1433del , LRG_308t1:c.1417_1433del	NP_078951.2:p.Pro473SerfsTer8
XM_011545946.1:c.1423_1439del	XP_011544248.1:p.Pro475SerfsTer8
XM_011545947.1:c.1423_1439del	XP_011544249.1:p.Pro475SerfsTer8
XM_011545948.1:c.532_548del	XP_011544250.1:p.Pro178SerfsTer8
XR_950851.1:n.2213_2229del
XM_011545946.2:c.1423_1439del	XP_011544248.1:p.Pro475SerfsTer8
XM_011545947.2:c.1423_1439del	XP_011544249.1:p.Pro475SerfsTer8
XM_011545948.2:c.532_548del	XP_011544250.1:p.Pro178SerfsTer8
XM_017023671.1:c.1423_1439del	XP_016879160.1:p.Pro475SerfsTer8
XM_017023672.2:c.1417_1433del	XP_016879161.1:p.Pro473SerfsTer8
XM_017023673.2:c.1417_1433del	XP_016879162.1:p.Pro473SerfsTer8
NM_024675.4:c.1417_1433del MANE Select	NP_078951.2:p.Pro473SerfsTer8