Canonical Allele Identifier: CA916081841

Gene: PALB2

Linked Data

• ClinVar Variation Id: 830091
• ClinVar RCV Id: RCV001030123
• dbSNP Id: rs1967104136

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23637938del , CM000678.2:g.23637938del	GRCh38
NC_000016.9:g.23649259del , CM000678.1:g.23649259del	GRCh37
NC_000016.8:g.23556760del	NCBI36
NG_007406.1:g.8420del , LRG_308:g.8420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.129del	ENSP00000460666.3:p.Glu44LysfsTer11
ENST00000565038.2:c.123del	ENSP00000459882.2:p.Glu42LysfsTer11
ENST00000566069.6:c.123del	ENSP00000459237.2:p.Glu42LysfsTer11
ENST00000697377.2:c.129del	ENSP00000513286.2:p.Glu44LysfsTer11
ENST00000697379.2:c.129del	ENSP00000513287.2:p.Glu44LysfsTer11
ENST00000561514.2:c.-763del	ENSP00000460666.2:n.-763del
ENST00000697374.1:c.-763del	ENSP00000513284.1:n.-763del
ENST00000697375.1:n.1470del
ENST00000697376.1:c.-763del	ENSP00000513285.1:n.-763del
ENST00000697377.1:c.-763del	ENSP00000513286.1:n.-763del
ENST00000697378.1:n.643del
ENST00000697379.1:c.-763del	ENSP00000513287.1:n.-763del
ENST00000697382.1:c.-763del	ENSP00000513288.1:n.-763del
ENST00000697383.1:c.48+3172del	ENSP00000513289.1:n.48+3172del
ENST00000697384.1:n.277del
ENST00000261584.9:c.123del MANE Select	ENSP00000261584.4:p.Glu42LysfsTer11
ENST00000261584.8:c.123del	ENSP00000261584.4:p.Glu42LysfsTer11
ENST00000561514.1:c.129del	ENSP00000460666.1:p.Glu44LysfsTer11
ENST00000567003.1:n.401del
ENST00000568219.5:c.-763del	ENSP00000454703.2:n.-763del
NM_024675.3:c.123del , LRG_308t1:c.123del	NP_078951.2:p.Glu42LysfsTer11
XM_011545946.1:c.129del	XP_011544248.1:p.Glu44LysfsTer11
XM_011545947.1:c.129del	XP_011544249.1:p.Glu44LysfsTer11
XM_011545948.1:c.-763del	XP_011544250.1:n.-763del
XR_950851.1:n.919del
XM_011545946.2:c.129del	XP_011544248.1:p.Glu44LysfsTer11
XM_011545947.2:c.129del	XP_011544249.1:p.Glu44LysfsTer11
XM_011545948.2:c.-763del	XP_011544250.1:n.-763del
XM_017023671.1:c.129del	XP_016879160.1:p.Glu44LysfsTer11
XM_017023672.2:c.123del	XP_016879161.1:p.Glu42LysfsTer11
XM_017023673.2:c.123del	XP_016879162.1:p.Glu42LysfsTer11
NM_024675.4:c.123del MANE Select	NP_078951.2:p.Glu42LysfsTer11