Canonical Allele Identifier: CA2580091336

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1798961
• ClinVar RCV Id: RCV002435932 ; RCV003455509

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621448_23621449insT , CM000678.2:g.23621448_23621449insT	GRCh38
NC_000016.9:g.23632769_23632770insT , CM000678.1:g.23632769_23632770insT	GRCh37
NC_000016.8:g.23540270_23540271insT	NCBI36
NG_007406.1:g.24909_24910insA , LRG_308:g.24909_24910insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3032_3033insA	ENSP00000460666.3:p.Glu1012Ter
ENST00000565038.2:c.*507_*508insA	ENSP00000459882.2:n.*507_*508insA
ENST00000566069.6:c.3026_3027insA	ENSP00000459237.2:p.Glu1010Ter
ENST00000697377.2:c.2870_2871insA	ENSP00000513286.2:p.Glu958Ter
ENST00000697379.2:c.3032_3033insA	ENSP00000513287.2:p.Glu1012Ter
ENST00000561514.2:c.2141_2142insA	ENSP00000460666.2:p.Glu715Ter
ENST00000697374.1:c.2141_2142insA	ENSP00000513284.1:p.Glu715Ter
ENST00000697375.1:n.4373_4374insA
ENST00000697376.1:c.2141_2142insA	ENSP00000513285.1:p.Glu715Ter
ENST00000697377.1:c.1979_1980insA	ENSP00000513286.1:p.Glu661Ter
ENST00000697378.1:n.3546_3547insA
ENST00000697379.1:c.2141_2142insA	ENSP00000513287.1:p.Glu715Ter
ENST00000697380.1:n.2318_2319insA
ENST00000697381.1:n.1721_1722insA
ENST00000697382.1:c.2141_2142insA	ENSP00000513288.1:p.Glu715Ter
ENST00000697383.1:c.560_561insA	ENSP00000513289.1:p.Glu188Ter
ENST00000261584.9:c.3026_3027insA MANE Select	ENSP00000261584.4:p.Glu1010Ter
ENST00000261584.8:c.3026_3027insA	ENSP00000261584.4:p.Glu1010Ter
ENST00000568219.5:c.2141_2142insA	ENSP00000454703.2:p.Glu715Ter
NM_024675.3:c.3026_3027insA , LRG_308t1:c.3026_3027insA	NP_078951.2:p.Glu1010Ter
XM_011545946.1:c.3032_3033insA	XP_011544248.1:p.Glu1012Ter
XM_011545947.1:c.3032_3033insA	XP_011544249.1:p.Glu1012Ter
XM_011545948.1:c.2141_2142insA	XP_011544250.1:p.Glu715Ter
XR_950851.1:n.3822_3823insA
XM_011545946.2:c.3032_3033insA	XP_011544248.1:p.Glu1012Ter
XM_011545947.2:c.3032_3033insA	XP_011544249.1:p.Glu1012Ter
XM_011545948.2:c.2141_2142insA	XP_011544250.1:p.Glu715Ter
XM_017023671.1:c.3032_3033insA	XP_016879160.1:p.Glu1012Ter
XM_017023672.2:c.3026_3027insA	XP_016879161.1:p.Glu1010Ter
XM_017023673.2:c.3026_3027insA	XP_016879162.1:p.Glu1010Ter
NM_024675.4:c.3026_3027insA MANE Select	NP_078951.2:p.Glu1010Ter