Canonical Allele Identifier: CA2697555720

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2691229
• ClinVar RCV Id: RCV003493317

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629861_23629862dup , CM000678.2:g.23629861_23629862dup	GRCh38
NC_000016.9:g.23641182_23641183dup , CM000678.1:g.23641182_23641183dup	GRCh37
NC_000016.8:g.23548683_23548684dup	NCBI36
NG_007406.1:g.16497_16498dup , LRG_308:g.16497_16498dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2299_2300dup	ENSP00000460666.3:p.Asp767GlufsTer?
ENST00000565038.2:c.212-586_212-585dup	ENSP00000459882.2:n.212-586_212-585dup
ENST00000566069.6:c.2293_2294dup	ENSP00000459237.2:p.Asp765GlufsTer?
ENST00000697377.2:c.2299_2300dup	ENSP00000513286.2:p.Asp767GlufsTer?
ENST00000697379.2:c.2299_2300dup	ENSP00000513287.2:p.Asp767GlufsTer?
ENST00000561514.2:c.1408_1409dup	ENSP00000460666.2:p.Asp470GlufsTer?
ENST00000697374.1:c.1408_1409dup	ENSP00000513284.1:p.Asp470GlufsTer?
ENST00000697375.1:n.3640_3641dup
ENST00000697376.1:c.1408_1409dup	ENSP00000513285.1:p.Asp470GlufsTer?
ENST00000697377.1:c.1408_1409dup	ENSP00000513286.1:p.Asp470GlufsTer?
ENST00000697378.1:n.2813_2814dup
ENST00000697379.1:c.1408_1409dup	ENSP00000513287.1:p.Asp470GlufsTer?
ENST00000697380.1:n.1221_1222dup
ENST00000697381.1:n.988_989dup
ENST00000697382.1:c.1408_1409dup	ENSP00000513288.1:p.Asp470GlufsTer?
ENST00000697383.1:c.49-586_49-585dup	ENSP00000513289.1:n.49-586_49-585dup
ENST00000697384.1:n.2447_2448dup
ENST00000261584.9:c.2293_2294dup MANE Select	ENSP00000261584.4:p.Asp765GlufsTer?
ENST00000261584.8:c.2293_2294dup	ENSP00000261584.4:p.Asp765GlufsTer?
ENST00000565038.1:c.87-586_87-585dup
ENST00000568219.5:c.1408_1409dup	ENSP00000454703.2:p.Asp470GlufsTer?
NM_024675.3:c.2293_2294dup , LRG_308t1:c.2293_2294dup	NP_078951.2:p.Asp765GlufsTer?
XM_011545946.1:c.2299_2300dup	XP_011544248.1:p.Asp767GlufsTer?
XM_011545947.1:c.2299_2300dup	XP_011544249.1:p.Asp767GlufsTer?
XM_011545948.1:c.1408_1409dup	XP_011544250.1:p.Asp470GlufsTer?
XR_950851.1:n.3089_3090dup
XM_011545946.2:c.2299_2300dup	XP_011544248.1:p.Asp767GlufsTer?
XM_011545947.2:c.2299_2300dup	XP_011544249.1:p.Asp767GlufsTer?
XM_011545948.2:c.1408_1409dup	XP_011544250.1:p.Asp470GlufsTer?
XM_017023671.1:c.2299_2300dup	XP_016879160.1:p.Asp767GlufsTer?
XM_017023672.2:c.2293_2294dup	XP_016879161.1:p.Asp765GlufsTer?
XM_017023673.2:c.2293_2294dup	XP_016879162.1:p.Asp765GlufsTer?
NM_024675.4:c.2293_2294dup MANE Select	NP_078951.2:p.Asp765GlufsTer?