Canonical Allele Identifier: CA2695197487

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674101
• ClinVar RCV Id: RCV003452297

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629907_23629910dup , CM000678.2:g.23629907_23629910dup	GRCh38
NC_000016.9:g.23641228_23641231dup , CM000678.1:g.23641228_23641231dup	GRCh37
NC_000016.8:g.23548729_23548732dup	NCBI36
NG_007406.1:g.16448_16451dup , LRG_308:g.16448_16451dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2250_2253dup	ENSP00000460666.3:p.Val752ArgfsTer24
ENST00000565038.2:c.212-635_212-632dup	ENSP00000459882.2:n.212-635_212-632dup
ENST00000566069.6:c.2244_2247dup	ENSP00000459237.2:p.Val750ArgfsTer24
ENST00000697377.2:c.2250_2253dup	ENSP00000513286.2:p.Val752ArgfsTer24
ENST00000697379.2:c.2250_2253dup	ENSP00000513287.2:p.Val752ArgfsTer24
ENST00000561514.2:c.1359_1362dup	ENSP00000460666.2:p.Val455ArgfsTer24
ENST00000697374.1:c.1359_1362dup	ENSP00000513284.1:p.Val455ArgfsTer24
ENST00000697375.1:n.3591_3594dup
ENST00000697376.1:c.1359_1362dup	ENSP00000513285.1:p.Val455ArgfsTer24
ENST00000697377.1:c.1359_1362dup	ENSP00000513286.1:p.Val455ArgfsTer24
ENST00000697378.1:n.2764_2767dup
ENST00000697379.1:c.1359_1362dup	ENSP00000513287.1:p.Val455ArgfsTer24
ENST00000697380.1:n.1172_1175dup
ENST00000697381.1:n.939_942dup
ENST00000697382.1:c.1359_1362dup	ENSP00000513288.1:p.Val455ArgfsTer24
ENST00000697383.1:c.49-635_49-632dup	ENSP00000513289.1:n.49-635_49-632dup
ENST00000697384.1:n.2398_2401dup
ENST00000261584.9:c.2244_2247dup MANE Select	ENSP00000261584.4:p.Val750ArgfsTer24
ENST00000261584.8:c.2244_2247dup	ENSP00000261584.4:p.Val750ArgfsTer24
ENST00000565038.1:c.87-635_87-632dup
ENST00000568219.5:c.1359_1362dup	ENSP00000454703.2:p.Val455ArgfsTer24
NM_024675.3:c.2244_2247dup , LRG_308t1:c.2244_2247dup	NP_078951.2:p.Val750ArgfsTer24
XM_011545946.1:c.2250_2253dup	XP_011544248.1:p.Val752ArgfsTer24
XM_011545947.1:c.2250_2253dup	XP_011544249.1:p.Val752ArgfsTer24
XM_011545948.1:c.1359_1362dup	XP_011544250.1:p.Val455ArgfsTer24
XR_950851.1:n.3040_3043dup
XM_011545946.2:c.2250_2253dup	XP_011544248.1:p.Val752ArgfsTer24
XM_011545947.2:c.2250_2253dup	XP_011544249.1:p.Val752ArgfsTer24
XM_011545948.2:c.1359_1362dup	XP_011544250.1:p.Val455ArgfsTer24
XM_017023671.1:c.2250_2253dup	XP_016879160.1:p.Val752ArgfsTer24
XM_017023672.2:c.2244_2247dup	XP_016879161.1:p.Val750ArgfsTer24
XM_017023673.2:c.2244_2247dup	XP_016879162.1:p.Val750ArgfsTer24
NM_024675.4:c.2244_2247dup MANE Select	NP_078951.2:p.Val750ArgfsTer24