Canonical Allele Identifier: CA915949173

Gene: PALB2

Linked Data

• ClinVar Variation Id: 803232
• ClinVar RCV Id: RCV000989554 ; RCV002434376
• dbSNP Id: rs1597082866

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624070_23624073dup , CM000678.2:g.23624070_23624073dup	GRCh38
NC_000016.9:g.23635391_23635394dup , CM000678.1:g.23635391_23635394dup	GRCh37
NC_000016.8:g.23542892_23542895dup	NCBI36
NG_007406.1:g.22285_22288dup , LRG_308:g.22285_22288dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2776_2779dup	ENSP00000460666.3:p.Val927AlafsTer4
ENST00000565038.2:c.*251_*254dup	ENSP00000459882.2:n.*251_*254dup
ENST00000566069.6:c.2770_2773dup	ENSP00000459237.2:p.Val925AlafsTer4
ENST00000697377.2:c.2614_2617dup	ENSP00000513286.2:p.Val873AlafsTer4
ENST00000697379.2:c.2776_2779dup	ENSP00000513287.2:p.Val927AlafsTer4
ENST00000561514.2:c.1885_1888dup	ENSP00000460666.2:p.Val630AlafsTer4
ENST00000697374.1:c.1885_1888dup	ENSP00000513284.1:p.Val630AlafsTer4
ENST00000697375.1:n.4117_4120dup
ENST00000697376.1:c.1885_1888dup	ENSP00000513285.1:p.Val630AlafsTer4
ENST00000697377.1:c.1723_1726dup	ENSP00000513286.1:p.Val576AlafsTer4
ENST00000697378.1:n.3290_3293dup
ENST00000697379.1:c.1885_1888dup	ENSP00000513287.1:p.Val630AlafsTer4
ENST00000697380.1:n.2062_2065dup
ENST00000697381.1:n.1465_1468dup
ENST00000697382.1:c.1885_1888dup	ENSP00000513288.1:p.Val630AlafsTer4
ENST00000697383.1:c.304_307dup	ENSP00000513289.1:p.Val103AlafsTer4
ENST00000261584.9:c.2770_2773dup MANE Select	ENSP00000261584.4:p.Val925AlafsTer4
ENST00000261584.8:c.2770_2773dup	ENSP00000261584.4:p.Val925AlafsTer4
ENST00000568219.5:c.1885_1888dup	ENSP00000454703.2:p.Val630AlafsTer4
NM_024675.3:c.2770_2773dup , LRG_308t1:c.2770_2773dup	NP_078951.2:p.Val925AlafsTer4
XM_011545946.1:c.2776_2779dup	XP_011544248.1:p.Val927AlafsTer4
XM_011545947.1:c.2776_2779dup	XP_011544249.1:p.Val927AlafsTer4
XM_011545948.1:c.1885_1888dup	XP_011544250.1:p.Val630AlafsTer4
XR_950851.1:n.3566_3569dup
XM_011545946.2:c.2776_2779dup	XP_011544248.1:p.Val927AlafsTer4
XM_011545947.2:c.2776_2779dup	XP_011544249.1:p.Val927AlafsTer4
XM_011545948.2:c.1885_1888dup	XP_011544250.1:p.Val630AlafsTer4
XM_017023671.1:c.2776_2779dup	XP_016879160.1:p.Val927AlafsTer4
XM_017023672.2:c.2770_2773dup	XP_016879161.1:p.Val925AlafsTer4
XM_017023673.2:c.2770_2773dup	XP_016879162.1:p.Val925AlafsTer4
NM_024675.4:c.2770_2773dup MANE Select	NP_078951.2:p.Val925AlafsTer4