Canonical Allele Identifier: CA658658412

Gene: PALB2

Linked Data

• ClinVar Variation Id: 482004
• ClinVar RCV Id: RCV000571927 ; RCV001858207 ; RCV003159963
• dbSNP Id: rs1555460548
• gnomAD v3: 16-23630181-TC-T
• gnomAD v4: 16-23630181-TC-T
• MyVariant Identifiers: chr16:g.23641503del (hg19) ; chr16:g.23630182del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630183del , CM000678.2:g.23630183del	GRCh38
NC_000016.9:g.23641504del , CM000678.1:g.23641504del	GRCh37
NC_000016.8:g.23549005del	NCBI36
NG_007406.1:g.16176del , LRG_308:g.16176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1978del	ENSP00000460666.3:p.Glu660AsnfsTer2
ENST00000565038.2:c.212-907del	ENSP00000459882.2:n.212-907del
ENST00000566069.6:c.1972del	ENSP00000459237.2:p.Glu658AsnfsTer2
ENST00000697377.2:c.1978del	ENSP00000513286.2:p.Glu660AsnfsTer2
ENST00000697379.2:c.1978del	ENSP00000513287.2:p.Glu660AsnfsTer2
ENST00000561514.2:c.1087del	ENSP00000460666.2:p.Glu363AsnfsTer2
ENST00000697374.1:c.1087del	ENSP00000513284.1:p.Glu363AsnfsTer2
ENST00000697375.1:n.3319del
ENST00000697376.1:c.1087del	ENSP00000513285.1:p.Glu363AsnfsTer2
ENST00000697377.1:c.1087del	ENSP00000513286.1:p.Glu363AsnfsTer2
ENST00000697378.1:n.2492del
ENST00000697379.1:c.1087del	ENSP00000513287.1:p.Glu363AsnfsTer2
ENST00000697380.1:n.900del
ENST00000697381.1:n.667del
ENST00000697382.1:c.1087del	ENSP00000513288.1:p.Glu363AsnfsTer2
ENST00000697383.1:c.49-907del	ENSP00000513289.1:n.49-907del
ENST00000697384.1:n.2126del
ENST00000261584.9:c.1972del MANE Select	ENSP00000261584.4:p.Glu658AsnfsTer2
ENST00000261584.8:c.1972del	ENSP00000261584.4:p.Glu658AsnfsTer2
ENST00000565038.1:c.87-907del
ENST00000568219.5:c.1087del	ENSP00000454703.2:p.Glu363AsnfsTer2
NM_024675.3:c.1972del , LRG_308t1:c.1972del	NP_078951.2:p.Glu658AsnfsTer2
XM_011545946.1:c.1978del	XP_011544248.1:p.Glu660AsnfsTer2
XM_011545947.1:c.1978del	XP_011544249.1:p.Glu660AsnfsTer2
XM_011545948.1:c.1087del	XP_011544250.1:p.Glu363AsnfsTer2
XR_950851.1:n.2768del
XM_011545946.2:c.1978del	XP_011544248.1:p.Glu660AsnfsTer2
XM_011545947.2:c.1978del	XP_011544249.1:p.Glu660AsnfsTer2
XM_011545948.2:c.1087del	XP_011544250.1:p.Glu363AsnfsTer2
XM_017023671.1:c.1978del	XP_016879160.1:p.Glu660AsnfsTer2
XM_017023672.2:c.1972del	XP_016879161.1:p.Glu658AsnfsTer2
XM_017023673.2:c.1972del	XP_016879162.1:p.Glu658AsnfsTer2
NM_024675.4:c.1972del MANE Select	NP_078951.2:p.Glu658AsnfsTer2