Canonical Allele Identifier: CA916081818

Gene: PALB2

Linked Data

• ClinVar Variation Id: 830123
• ClinVar RCV Id: RCV001030182 ; RCV003160192
• dbSNP Id: rs1967016153

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635706_23635707insA , CM000678.2:g.23635706_23635707insA	GRCh38
NC_000016.9:g.23647027_23647028insA , CM000678.1:g.23647027_23647028insA	GRCh37
NC_000016.8:g.23554528_23554529insA	NCBI36
NG_007406.1:g.10651_10652insT , LRG_308:g.10651_10652insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.845_846insT	ENSP00000460666.3:p.Ile283HisfsTer2
ENST00000565038.2:c.211+2143_211+2144insT	ENSP00000459882.2:n.211+2143_211+2144insT
ENST00000566069.6:c.839_840insT	ENSP00000459237.2:p.Ile281HisfsTer2
ENST00000697377.2:c.845_846insT	ENSP00000513286.2:p.Ile283HisfsTer2
ENST00000697379.2:c.845_846insT	ENSP00000513287.2:p.Ile283HisfsTer2
ENST00000561514.2:c.-47_-46insT	ENSP00000460666.2:n.-47_-46insT
ENST00000697374.1:c.-47_-46insT	ENSP00000513284.1:n.-47_-46insT
ENST00000697375.1:n.2186_2187insT
ENST00000697376.1:c.-47_-46insT	ENSP00000513285.1:n.-47_-46insT
ENST00000697377.1:c.-47_-46insT	ENSP00000513286.1:n.-47_-46insT
ENST00000697378.1:n.1359_1360insT
ENST00000697379.1:c.-47_-46insT	ENSP00000513287.1:n.-47_-46insT
ENST00000697382.1:c.-47_-46insT	ENSP00000513288.1:n.-47_-46insT
ENST00000697383.1:c.48+5403_48+5404insT	ENSP00000513289.1:n.48+5403_48+5404insT
ENST00000697384.1:n.993_994insT
ENST00000261584.9:c.839_840insT MANE Select	ENSP00000261584.4:p.Ile281HisfsTer2
ENST00000261584.8:c.839_840insT	ENSP00000261584.4:p.Ile281HisfsTer2
ENST00000565038.1:c.86+2143_86+2144insT
ENST00000568219.5:c.-47_-46insT	ENSP00000454703.2:n.-47_-46insT
NM_024675.3:c.839_840insT , LRG_308t1:c.839_840insT	NP_078951.2:p.Ile281HisfsTer2
XM_011545946.1:c.845_846insT	XP_011544248.1:p.Ile283HisfsTer2
XM_011545947.1:c.845_846insT	XP_011544249.1:p.Ile283HisfsTer2
XM_011545948.1:c.-47_-46insT	XP_011544250.1:n.-47_-46insT
XR_950851.1:n.1635_1636insT
XM_011545946.2:c.845_846insT	XP_011544248.1:p.Ile283HisfsTer2
XM_011545947.2:c.845_846insT	XP_011544249.1:p.Ile283HisfsTer2
XM_011545948.2:c.-47_-46insT	XP_011544250.1:n.-47_-46insT
XM_017023671.1:c.845_846insT	XP_016879160.1:p.Ile283HisfsTer2
XM_017023672.2:c.839_840insT	XP_016879161.1:p.Ile281HisfsTer2
XM_017023673.2:c.839_840insT	XP_016879162.1:p.Ile281HisfsTer2
NM_024675.4:c.839_840insT MANE Select	NP_078951.2:p.Ile281HisfsTer2