Canonical Allele Identifier: CA16609608

Gene: PALB2

Linked Data

• ClinVar Variation Id: 402309
• ClinVar RCV Id: RCV000454282
• dbSNP Id: rs1060499829
• MyVariant Identifiers: chr16:g.23652430del (hg19) ; chr16:g.23641109del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641110del , CM000678.2:g.23641110del	GRCh38
NC_000016.9:g.23652431del , CM000678.1:g.23652431del	GRCh37
NC_000016.8:g.23559932del	NCBI36
NG_007406.1:g.5249del , LRG_308:g.5249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-804del	ENSP00000460666.3:n.-804del
ENST00000565038.2:c.48+1del
ENST00000566069.6:c.48+1del
ENST00000697377.2:c.-192+1del
ENST00000697379.2:c.-98+1del
ENST00000561514.2:c.-1695del	ENSP00000460666.2:n.-1695del
ENST00000697374.1:c.-1286del	ENSP00000513284.1:n.-1286del
ENST00000697376.1:c.-1008+1del
ENST00000697377.1:c.-1083+1del
ENST00000697379.1:c.-989+1del
ENST00000697382.1:c.-1746del	ENSP00000513288.1:n.-1746del
ENST00000697383.1:c.48+1del
ENST00000697384.1:n.202+1del
ENST00000261584.9:c.48+1del
ENST00000261584.8:c.48+1del
ENST00000567003.1:n.192+1del
ENST00000568219.5:c.-838+18del	ENSP00000454703.2:n.-838+18del
NM_024675.3:c.48+1del , LRG_308t1:c.48+1del
XM_011545948.1:c.-972+1del
XM_011545946.2:c.-804del	XP_011544248.1:n.-804del
XM_011545947.2:c.-804del	XP_011544249.1:n.-804del
XM_011545948.2:c.-972+1del
XM_017023671.1:c.-804del	XP_016879160.1:n.-804del
XM_017023672.2:c.48+1del
XM_017023673.2:c.48+1del
NM_024675.4:c.48+1del