Canonical Allele Identifier: CA915949190

Gene: PALB2

Linked Data

• ClinVar Variation Id: 820603
• ClinVar RCV Id: RCV001014229
• dbSNP Id: rs1597090324

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630106del , CM000678.2:g.23630106del	GRCh38
NC_000016.9:g.23641427del , CM000678.1:g.23641427del	GRCh37
NC_000016.8:g.23548928del	NCBI36
NG_007406.1:g.16252del , LRG_308:g.16252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2054del	ENSP00000460666.3:p.His685LeufsTer26
ENST00000565038.2:c.212-831del	ENSP00000459882.2:n.212-831del
ENST00000566069.6:c.2048del	ENSP00000459237.2:p.His683LeufsTer26
ENST00000697377.2:c.2054del	ENSP00000513286.2:p.His685LeufsTer26
ENST00000697379.2:c.2054del	ENSP00000513287.2:p.His685LeufsTer26
ENST00000561514.2:c.1163del	ENSP00000460666.2:p.His388LeufsTer26
ENST00000697374.1:c.1163del	ENSP00000513284.1:p.His388LeufsTer26
ENST00000697375.1:n.3395del
ENST00000697376.1:c.1163del	ENSP00000513285.1:p.His388LeufsTer26
ENST00000697377.1:c.1163del	ENSP00000513286.1:p.His388LeufsTer26
ENST00000697378.1:n.2568del
ENST00000697379.1:c.1163del	ENSP00000513287.1:p.His388LeufsTer26
ENST00000697380.1:n.976del
ENST00000697381.1:n.743del
ENST00000697382.1:c.1163del	ENSP00000513288.1:p.His388LeufsTer26
ENST00000697383.1:c.49-831del	ENSP00000513289.1:n.49-831del
ENST00000697384.1:n.2202del
ENST00000261584.9:c.2048del MANE Select	ENSP00000261584.4:p.His683LeufsTer26
ENST00000261584.8:c.2048del	ENSP00000261584.4:p.His683LeufsTer26
ENST00000565038.1:c.87-831del
ENST00000568219.5:c.1163del	ENSP00000454703.2:p.His388LeufsTer26
NM_024675.3:c.2048del , LRG_308t1:c.2048del	NP_078951.2:p.His683LeufsTer26
XM_011545946.1:c.2054del	XP_011544248.1:p.His685LeufsTer26
XM_011545947.1:c.2054del	XP_011544249.1:p.His685LeufsTer26
XM_011545948.1:c.1163del	XP_011544250.1:p.His388LeufsTer26
XR_950851.1:n.2844del
XM_011545946.2:c.2054del	XP_011544248.1:p.His685LeufsTer26
XM_011545947.2:c.2054del	XP_011544249.1:p.His685LeufsTer26
XM_011545948.2:c.1163del	XP_011544250.1:p.His388LeufsTer26
XM_017023671.1:c.2054del	XP_016879160.1:p.His685LeufsTer26
XM_017023672.2:c.2048del	XP_016879161.1:p.His683LeufsTer26
XM_017023673.2:c.2048del	XP_016879162.1:p.His683LeufsTer26
NM_024675.4:c.2048del MANE Select	NP_078951.2:p.His683LeufsTer26