Canonical Allele Identifier: CA658658438

Gene: PALB2

Linked Data

• ClinVar Variation Id: 482007
• ClinVar RCV Id: RCV000657358 ; RCV000573235 ; RCV001221268
• dbSNP Id: rs1555461586
• MyVariant Identifiers: chr16:g.23647020_23647023del (hg19) ; chr16:g.23635699_23635702del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635700_23635703del , CM000678.2:g.23635700_23635703del	GRCh38
NC_000016.9:g.23647021_23647024del , CM000678.1:g.23647021_23647024del	GRCh37
NC_000016.8:g.23554522_23554525del	NCBI36
NG_007406.1:g.10656_10659del , LRG_308:g.10656_10659del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.850_853del	ENSP00000460666.3:p.Arg284LeufsTer5
ENST00000565038.2:c.211+2148_211+2151del	ENSP00000459882.2:n.211+2148_211+2151del
ENST00000566069.6:c.844_847del	ENSP00000459237.2:p.Arg282LeufsTer5
ENST00000697377.2:c.850_853del	ENSP00000513286.2:p.Arg284LeufsTer5
ENST00000697379.2:c.850_853del	ENSP00000513287.2:p.Arg284LeufsTer5
ENST00000561514.2:c.-42_-39del	ENSP00000460666.2:n.-42_-39del
ENST00000697374.1:c.-42_-39del	ENSP00000513284.1:n.-42_-39del
ENST00000697375.1:n.2191_2194del
ENST00000697376.1:c.-42_-39del	ENSP00000513285.1:n.-42_-39del
ENST00000697377.1:c.-42_-39del	ENSP00000513286.1:n.-42_-39del
ENST00000697378.1:n.1364_1367del
ENST00000697379.1:c.-42_-39del	ENSP00000513287.1:n.-42_-39del
ENST00000697382.1:c.-42_-39del	ENSP00000513288.1:n.-42_-39del
ENST00000697383.1:c.48+5408_48+5411del	ENSP00000513289.1:n.48+5408_48+5411del
ENST00000697384.1:n.998_1001del
ENST00000261584.9:c.844_847del MANE Select	ENSP00000261584.4:p.Arg282LeufsTer5
ENST00000261584.8:c.844_847del	ENSP00000261584.4:p.Arg282LeufsTer5
ENST00000565038.1:c.86+2148_86+2151del
ENST00000568219.5:c.-42_-39del	ENSP00000454703.2:n.-42_-39del
NM_024675.3:c.844_847del , LRG_308t1:c.844_847del	NP_078951.2:p.Arg282LeufsTer5
XM_011545946.1:c.850_853del	XP_011544248.1:p.Arg284LeufsTer5
XM_011545947.1:c.850_853del	XP_011544249.1:p.Arg284LeufsTer5
XM_011545948.1:c.-42_-39del	XP_011544250.1:n.-42_-39del
XR_950851.1:n.1640_1643del
XM_011545946.2:c.850_853del	XP_011544248.1:p.Arg284LeufsTer5
XM_011545947.2:c.850_853del	XP_011544249.1:p.Arg284LeufsTer5
XM_011545948.2:c.-42_-39del	XP_011544250.1:n.-42_-39del
XM_017023671.1:c.850_853del	XP_016879160.1:p.Arg284LeufsTer5
XM_017023672.2:c.844_847del	XP_016879161.1:p.Arg282LeufsTer5
XM_017023673.2:c.844_847del	XP_016879162.1:p.Arg282LeufsTer5
NM_024675.4:c.844_847del MANE Select	NP_078951.2:p.Arg282LeufsTer5