Canonical Allele Identifier: CA2543183822

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636146_23636164del , CM000678.2:g.23636146_23636164del	GRCh38
NC_000016.9:g.23647467_23647485del , CM000678.1:g.23647467_23647485del	GRCh37
NC_000016.8:g.23554968_23554986del	NCBI36
NG_007406.1:g.10194_10212del , LRG_308:g.10194_10212del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.388_406del	ENSP00000460666.3:p.Phe130ThrfsTer?
ENST00000565038.2:c.211+1686_211+1704del	ENSP00000459882.2:n.211+1686_211+1704del
ENST00000566069.6:c.382_400del	ENSP00000459237.2:p.Phe128ThrfsTer?
ENST00000697377.2:c.388_406del	ENSP00000513286.2:p.Phe130ThrfsTer?
ENST00000697379.2:c.388_406del	ENSP00000513287.2:p.Phe130ThrfsTer?
ENST00000561514.2:c.-504_-486del	ENSP00000460666.2:n.-504_-486del
ENST00000697374.1:c.-504_-486del	ENSP00000513284.1:n.-504_-486del
ENST00000697375.1:n.1729_1747del
ENST00000697376.1:c.-504_-486del	ENSP00000513285.1:n.-504_-486del
ENST00000697377.1:c.-504_-486del	ENSP00000513286.1:n.-504_-486del
ENST00000697378.1:n.902_920del
ENST00000697379.1:c.-504_-486del	ENSP00000513287.1:n.-504_-486del
ENST00000697382.1:c.-504_-486del	ENSP00000513288.1:n.-504_-486del
ENST00000697383.1:c.48+4946_48+4964del	ENSP00000513289.1:n.48+4946_48+4964del
ENST00000697384.1:n.536_554del
ENST00000261584.9:c.382_400del MANE Select	ENSP00000261584.4:p.Phe128ThrfsTer?
ENST00000261584.8:c.382_400del	ENSP00000261584.4:p.Phe128ThrfsTer?
ENST00000565038.1:c.86+1686_86+1704del
ENST00000567003.1:n.660_678del
ENST00000568219.5:c.-504_-486del	ENSP00000454703.2:n.-504_-486del
NM_024675.3:c.382_400del , LRG_308t1:c.382_400del	NP_078951.2:p.Phe128ThrfsTer?
XM_011545946.1:c.388_406del	XP_011544248.1:p.Phe130ThrfsTer?
XM_011545947.1:c.388_406del	XP_011544249.1:p.Phe130ThrfsTer?
XM_011545948.1:c.-504_-486del	XP_011544250.1:n.-504_-486del
XR_950851.1:n.1178_1196del
XM_011545946.2:c.388_406del	XP_011544248.1:p.Phe130ThrfsTer?
XM_011545947.2:c.388_406del	XP_011544249.1:p.Phe130ThrfsTer?
XM_011545948.2:c.-504_-486del	XP_011544250.1:n.-504_-486del
XM_017023671.1:c.388_406del	XP_016879160.1:p.Phe130ThrfsTer?
XM_017023672.2:c.382_400del	XP_016879161.1:p.Phe128ThrfsTer?
XM_017023673.2:c.382_400del	XP_016879162.1:p.Phe128ThrfsTer?
NM_024675.4:c.382_400del MANE Select	NP_078951.2:p.Phe128ThrfsTer?