Canonical Allele Identifier: CA658683925

Gene: PALB2

Linked Data

• ClinVar Variation Id: 496464
• ClinVar RCV Id: RCV000585929 ; RCV000709750 ; RCV003584668 ; RCV003493679
• dbSNP Id: rs1555461870
• gnomAD v4: 16-23636316-CAT-C
• MyVariant Identifiers: chr16:g.23647638_23647639del (hg19) ; chr16:g.23636317_23636318del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636319_23636320del , CM000678.2:g.23636319_23636320del	GRCh38
NC_000016.9:g.23647640_23647641del , CM000678.1:g.23647640_23647641del	GRCh37
NC_000016.8:g.23555141_23555142del	NCBI36
NG_007406.1:g.10040_10041del , LRG_308:g.10040_10041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.234_235del	ENSP00000460666.3:p.Ile78MetfsTer4
ENST00000565038.2:c.211+1532_211+1533del	ENSP00000459882.2:n.211+1532_211+1533del
ENST00000566069.6:c.228_229del	ENSP00000459237.2:p.Ile76MetfsTer4
ENST00000697377.2:c.234_235del	ENSP00000513286.2:p.Ile78MetfsTer4
ENST00000697379.2:c.234_235del	ENSP00000513287.2:p.Ile78MetfsTer4
ENST00000561514.2:c.-658_-657del	ENSP00000460666.2:n.-658_-657del
ENST00000697374.1:c.-658_-657del	ENSP00000513284.1:n.-658_-657del
ENST00000697375.1:n.1575_1576del
ENST00000697376.1:c.-658_-657del	ENSP00000513285.1:n.-658_-657del
ENST00000697377.1:c.-658_-657del	ENSP00000513286.1:n.-658_-657del
ENST00000697378.1:n.748_749del
ENST00000697379.1:c.-658_-657del	ENSP00000513287.1:n.-658_-657del
ENST00000697382.1:c.-658_-657del	ENSP00000513288.1:n.-658_-657del
ENST00000697383.1:c.48+4792_48+4793del	ENSP00000513289.1:n.48+4792_48+4793del
ENST00000697384.1:n.382_383del
ENST00000261584.9:c.228_229del MANE Select	ENSP00000261584.4:p.Ile76MetfsTer4
ENST00000261584.8:c.228_229del	ENSP00000261584.4:p.Ile76MetfsTer4
ENST00000561514.1:c.234_235del	ENSP00000460666.1:p.Ile78MetfsTer4
ENST00000565038.1:c.86+1532_86+1533del
ENST00000567003.1:n.506_507del
ENST00000568219.5:c.-658_-657del	ENSP00000454703.2:n.-658_-657del
NM_024675.3:c.228_229del , LRG_308t1:c.228_229del	NP_078951.2:p.Ile76MetfsTer4
XM_011545946.1:c.234_235del	XP_011544248.1:p.Ile78MetfsTer4
XM_011545947.1:c.234_235del	XP_011544249.1:p.Ile78MetfsTer4
XM_011545948.1:c.-658_-657del	XP_011544250.1:n.-658_-657del
XR_950851.1:n.1024_1025del
XM_011545946.2:c.234_235del	XP_011544248.1:p.Ile78MetfsTer4
XM_011545947.2:c.234_235del	XP_011544249.1:p.Ile78MetfsTer4
XM_011545948.2:c.-658_-657del	XP_011544250.1:n.-658_-657del
XM_017023671.1:c.234_235del	XP_016879160.1:p.Ile78MetfsTer4
XM_017023672.2:c.228_229del	XP_016879161.1:p.Ile76MetfsTer4
XM_017023673.2:c.228_229del	XP_016879162.1:p.Ile76MetfsTer4
NM_024675.4:c.228_229del MANE Select	NP_078951.2:p.Ile76MetfsTer4