Canonical Allele Identifier: CA2499223447

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1071480
• ClinVar RCV Id: RCV001383962
• dbSNP Id: rs2142481327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641135_23641136del , CM000678.2:g.23641135_23641136del	GRCh38
NC_000016.9:g.23652456_23652457del , CM000678.1:g.23652456_23652457del	GRCh37
NC_000016.8:g.23559957_23559958del	NCBI36
NG_007406.1:g.5224_5225del , LRG_308:g.5224_5225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-829_-828del	ENSP00000460666.3:n.-829_-828del
ENST00000565038.2:c.24_25del	ENSP00000459882.2:p.Leu9GlnfsTer3
ENST00000566069.6:c.24_25del	ENSP00000459237.2:p.Leu9GlnfsTer3
ENST00000697377.2:c.-216_-215del	ENSP00000513286.2:n.-216_-215del
ENST00000697379.2:c.-122_-121del	ENSP00000513287.2:n.-122_-121del
ENST00000561514.2:c.-1720_-1719del	ENSP00000460666.2:n.-1720_-1719del
ENST00000697374.1:c.-1311_-1310del	ENSP00000513284.1:n.-1311_-1310del
ENST00000697376.1:c.-1032_-1031del	ENSP00000513285.1:n.-1032_-1031del
ENST00000697377.1:c.-1107_-1106del	ENSP00000513286.1:n.-1107_-1106del
ENST00000697379.1:c.-1013_-1012del	ENSP00000513287.1:n.-1013_-1012del
ENST00000697382.1:c.-1771_-1770del	ENSP00000513288.1:n.-1771_-1770del
ENST00000697383.1:c.24_25del	ENSP00000513289.1:p.Leu9GlnfsTer3
ENST00000697384.1:n.178_179del
ENST00000261584.9:c.24_25del MANE Select	ENSP00000261584.4:p.Leu9GlnfsTer3
ENST00000261584.8:c.24_25del	ENSP00000261584.4:p.Leu9GlnfsTer3
ENST00000567003.1:n.168_169del
ENST00000568219.5:c.-845_-844del	ENSP00000454703.2:n.-845_-844del
NM_024675.3:c.24_25del , LRG_308t1:c.24_25del	NP_078951.2:p.Leu9GlnfsTer3
XM_011545948.1:c.-996_-995del	XP_011544250.1:n.-996_-995del
XM_011545946.2:c.-829_-828del	XP_011544248.1:n.-829_-828del
XM_011545947.2:c.-829_-828del	XP_011544249.1:n.-829_-828del
XM_011545948.2:c.-996_-995del	XP_011544250.1:n.-996_-995del
XM_017023671.1:c.-829_-828del	XP_016879160.1:n.-829_-828del
XM_017023672.2:c.24_25del	XP_016879161.1:p.Leu9GlnfsTer3
XM_017023673.2:c.24_25del	XP_016879162.1:p.Leu9GlnfsTer3
NM_024675.4:c.24_25del MANE Select	NP_078951.2:p.Leu9GlnfsTer3