Canonical Allele Identifier: CA269504

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126614
• ClinVar RCV Id: RCV000478479 ; RCV001310143 ; RCV000572212 ; RCV001030245
• dbSNP Id: rs515726073
• MyVariant Identifiers: chr16:g.23646190_23646191delinsC (hg19) ; chr16:g.23634869_23634870delinsC (hg38)
• PubMed: PMID:23112754

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23634869_23634870delinsC , CM000678.2:g.23634869_23634870delinsC	GRCh38
NC_000016.9:g.23646190_23646191delinsC , CM000678.1:g.23646190_23646191delinsC	GRCh37
NC_000016.8:g.23553691_23553692delinsC	NCBI36
NG_007406.1:g.11488_11489delinsG , LRG_308:g.11488_11489delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1682_1683delinsG	ENSP00000460666.3:p.Gln561ArgfsTer2
ENST00000565038.2:c.211+2980_211+2981delinsG	ENSP00000459882.2:n.211+2980_211+2981delinsG
ENST00000566069.6:c.1676_1677delinsG	ENSP00000459237.2:p.Gln559ArgfsTer2
ENST00000697377.2:c.1682_1683delinsG	ENSP00000513286.2:p.Gln561ArgfsTer2
ENST00000697379.2:c.1682_1683delinsG	ENSP00000513287.2:p.Gln561ArgfsTer2
ENST00000561514.2:c.791_792delinsG	ENSP00000460666.2:p.Gln264ArgfsTer2
ENST00000697374.1:c.791_792delinsG	ENSP00000513284.1:p.Gln264ArgfsTer2
ENST00000697375.1:n.3023_3024delinsG
ENST00000697376.1:c.791_792delinsG	ENSP00000513285.1:p.Gln264ArgfsTer2
ENST00000697377.1:c.791_792delinsG	ENSP00000513286.1:p.Gln264ArgfsTer2
ENST00000697378.1:n.2196_2197delinsG
ENST00000697379.1:c.791_792delinsG	ENSP00000513287.1:p.Gln264ArgfsTer2
ENST00000697382.1:c.791_792delinsG	ENSP00000513288.1:p.Gln264ArgfsTer2
ENST00000697383.1:c.49-5595_49-5594delinsG	ENSP00000513289.1:n.49-5595_49-5594delinsG
ENST00000697384.1:n.1830_1831delinsG
ENST00000261584.9:c.1676_1677delinsG MANE Select	ENSP00000261584.4:p.Gln559ArgfsTer2
ENST00000261584.8:c.1676_1677delinsG	ENSP00000261584.4:p.Gln559ArgfsTer2
ENST00000565038.1:c.86+2980_86+2981delinsG
ENST00000568219.5:c.791_792delinsG	ENSP00000454703.2:p.Gln264ArgfsTer2
NM_024675.3:c.1676_1677delinsG , LRG_308t1:c.1676_1677delinsG	NP_078951.2:p.Gln559ArgfsTer2
XM_011545946.1:c.1682_1683delinsG	XP_011544248.1:p.Gln561ArgfsTer2
XM_011545947.1:c.1682_1683delinsG	XP_011544249.1:p.Gln561ArgfsTer2
XM_011545948.1:c.791_792delinsG	XP_011544250.1:p.Gln264ArgfsTer2
XR_950851.1:n.2472_2473delinsG
XM_011545946.2:c.1682_1683delinsG	XP_011544248.1:p.Gln561ArgfsTer2
XM_011545947.2:c.1682_1683delinsG	XP_011544249.1:p.Gln561ArgfsTer2
XM_011545948.2:c.791_792delinsG	XP_011544250.1:p.Gln264ArgfsTer2
XM_017023671.1:c.1682_1683delinsG	XP_016879160.1:p.Gln561ArgfsTer2
XM_017023672.2:c.1676_1677delinsG	XP_016879161.1:p.Gln559ArgfsTer2
XM_017023673.2:c.1676_1677delinsG	XP_016879162.1:p.Gln559ArgfsTer2
NM_024675.4:c.1676_1677delinsG MANE Select	NP_078951.2:p.Gln559ArgfsTer2