Canonical Allele Identifier: CA915949135

Gene: PALB2

Linked Data

• ClinVar Variation Id: 825195
• ClinVar RCV Id: RCV001023095 ; RCV001203881
• dbSNP Id: rs1597099149
• gnomAD v4: 16-23636063-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636070_23636071del , CM000678.2:g.23636070_23636071del	GRCh38
NC_000016.9:g.23647391_23647392del , CM000678.1:g.23647391_23647392del	GRCh37
NC_000016.8:g.23554892_23554893del	NCBI36
NG_007406.1:g.10293_10294del , LRG_308:g.10293_10294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.487_488del	ENSP00000460666.3:p.Asp163LeufsTer6
ENST00000565038.2:c.211+1785_211+1786del	ENSP00000459882.2:n.211+1785_211+1786del
ENST00000566069.6:c.481_482del	ENSP00000459237.2:p.Asp161LeufsTer6
ENST00000697377.2:c.487_488del	ENSP00000513286.2:p.Asp163LeufsTer6
ENST00000697379.2:c.487_488del	ENSP00000513287.2:p.Asp163LeufsTer6
ENST00000561514.2:c.-405_-404del	ENSP00000460666.2:n.-405_-404del
ENST00000697374.1:c.-405_-404del	ENSP00000513284.1:n.-405_-404del
ENST00000697375.1:n.1828_1829del
ENST00000697376.1:c.-405_-404del	ENSP00000513285.1:n.-405_-404del
ENST00000697377.1:c.-405_-404del	ENSP00000513286.1:n.-405_-404del
ENST00000697378.1:n.1001_1002del
ENST00000697379.1:c.-405_-404del	ENSP00000513287.1:n.-405_-404del
ENST00000697382.1:c.-405_-404del	ENSP00000513288.1:n.-405_-404del
ENST00000697383.1:c.48+5045_48+5046del	ENSP00000513289.1:n.48+5045_48+5046del
ENST00000697384.1:n.635_636del
ENST00000261584.9:c.481_482del MANE Select	ENSP00000261584.4:p.Asp161LeufsTer6
ENST00000261584.8:c.481_482del	ENSP00000261584.4:p.Asp161LeufsTer6
ENST00000565038.1:c.86+1785_86+1786del
ENST00000567003.1:n.759_760del
ENST00000568219.5:c.-405_-404del	ENSP00000454703.2:n.-405_-404del
NM_024675.3:c.481_482del , LRG_308t1:c.481_482del	NP_078951.2:p.Asp161LeufsTer6
XM_011545946.1:c.487_488del	XP_011544248.1:p.Asp163LeufsTer6
XM_011545947.1:c.487_488del	XP_011544249.1:p.Asp163LeufsTer6
XM_011545948.1:c.-405_-404del	XP_011544250.1:n.-405_-404del
XR_950851.1:n.1277_1278del
XM_011545946.2:c.487_488del	XP_011544248.1:p.Asp163LeufsTer6
XM_011545947.2:c.487_488del	XP_011544249.1:p.Asp163LeufsTer6
XM_011545948.2:c.-405_-404del	XP_011544250.1:n.-405_-404del
XM_017023671.1:c.487_488del	XP_016879160.1:p.Asp163LeufsTer6
XM_017023672.2:c.481_482del	XP_016879161.1:p.Asp161LeufsTer6
XM_017023673.2:c.481_482del	XP_016879162.1:p.Asp161LeufsTer6
NM_024675.4:c.481_482del MANE Select	NP_078951.2:p.Asp161LeufsTer6