Canonical Allele Identifier: CA2697555746

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2774013
• ClinVar RCV Id: RCV003585699

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635260_23635263del , CM000678.2:g.23635260_23635263del	GRCh38
NC_000016.9:g.23646581_23646584del , CM000678.1:g.23646581_23646584del	GRCh37
NC_000016.8:g.23554082_23554085del	NCBI36
NG_007406.1:g.11098_11101del , LRG_308:g.11098_11101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1292_1295del	ENSP00000460666.3:p.Ile431ArgfsTer22
ENST00000565038.2:c.211+2590_211+2593del	ENSP00000459882.2:n.211+2590_211+2593del
ENST00000566069.6:c.1286_1289del	ENSP00000459237.2:p.Ile429ArgfsTer22
ENST00000697377.2:c.1292_1295del	ENSP00000513286.2:p.Ile431ArgfsTer22
ENST00000697379.2:c.1292_1295del	ENSP00000513287.2:p.Ile431ArgfsTer22
ENST00000561514.2:c.401_404del	ENSP00000460666.2:p.Ile134ArgfsTer22
ENST00000697374.1:c.401_404del	ENSP00000513284.1:p.Ile134ArgfsTer22
ENST00000697375.1:n.2633_2636del
ENST00000697376.1:c.401_404del	ENSP00000513285.1:p.Ile134ArgfsTer22
ENST00000697377.1:c.401_404del	ENSP00000513286.1:p.Ile134ArgfsTer22
ENST00000697378.1:n.1806_1809del
ENST00000697379.1:c.401_404del	ENSP00000513287.1:p.Ile134ArgfsTer22
ENST00000697382.1:c.401_404del	ENSP00000513288.1:p.Ile134ArgfsTer22
ENST00000697383.1:c.48+5850_48+5853del	ENSP00000513289.1:n.48+5850_48+5853del
ENST00000697384.1:n.1440_1443del
ENST00000261584.9:c.1286_1289del MANE Select	ENSP00000261584.4:p.Ile429ArgfsTer22
ENST00000261584.8:c.1286_1289del	ENSP00000261584.4:p.Ile429ArgfsTer22
ENST00000565038.1:c.86+2590_86+2593del
ENST00000568219.5:c.401_404del	ENSP00000454703.2:p.Ile134ArgfsTer22
NM_024675.3:c.1286_1289del , LRG_308t1:c.1286_1289del	NP_078951.2:p.Ile429ArgfsTer22
XM_011545946.1:c.1292_1295del	XP_011544248.1:p.Ile431ArgfsTer22
XM_011545947.1:c.1292_1295del	XP_011544249.1:p.Ile431ArgfsTer22
XM_011545948.1:c.401_404del	XP_011544250.1:p.Ile134ArgfsTer22
XR_950851.1:n.2082_2085del
XM_011545946.2:c.1292_1295del	XP_011544248.1:p.Ile431ArgfsTer22
XM_011545947.2:c.1292_1295del	XP_011544249.1:p.Ile431ArgfsTer22
XM_011545948.2:c.401_404del	XP_011544250.1:p.Ile134ArgfsTer22
XM_017023671.1:c.1292_1295del	XP_016879160.1:p.Ile431ArgfsTer22
XM_017023672.2:c.1286_1289del	XP_016879161.1:p.Ile429ArgfsTer22
XM_017023673.2:c.1286_1289del	XP_016879162.1:p.Ile429ArgfsTer22
NM_024675.4:c.1286_1289del MANE Select	NP_078951.2:p.Ile429ArgfsTer22