Canonical Allele Identifier: CA2499223438

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1068690
• ClinVar RCV Id: RCV001380325
• dbSNP Id: rs2142419403
• gnomAD v4: 16-23635225-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635228dup , CM000678.2:g.23635228dup	GRCh38
NC_000016.9:g.23646549dup , CM000678.1:g.23646549dup	GRCh37
NC_000016.8:g.23554050dup	NCBI36
NG_007406.1:g.11132dup , LRG_308:g.11132dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1326dup	ENSP00000460666.3:p.Lys443Ter
ENST00000565038.2:c.211+2624dup	ENSP00000459882.2:n.211+2624dup
ENST00000566069.6:c.1320dup	ENSP00000459237.2:p.Lys441Ter
ENST00000697377.2:c.1326dup	ENSP00000513286.2:p.Lys443Ter
ENST00000697379.2:c.1326dup	ENSP00000513287.2:p.Lys443Ter
ENST00000561514.2:c.435dup	ENSP00000460666.2:p.Lys146Ter
ENST00000697374.1:c.435dup	ENSP00000513284.1:p.Lys146Ter
ENST00000697375.1:n.2667dup
ENST00000697376.1:c.435dup	ENSP00000513285.1:p.Lys146Ter
ENST00000697377.1:c.435dup	ENSP00000513286.1:p.Lys146Ter
ENST00000697378.1:n.1840dup
ENST00000697379.1:c.435dup	ENSP00000513287.1:p.Lys146Ter
ENST00000697382.1:c.435dup	ENSP00000513288.1:p.Lys146Ter
ENST00000697383.1:c.48+5884dup	ENSP00000513289.1:n.48+5884dup
ENST00000697384.1:n.1474dup
ENST00000261584.9:c.1320dup MANE Select	ENSP00000261584.4:p.Lys441Ter
ENST00000261584.8:c.1320dup	ENSP00000261584.4:p.Lys441Ter
ENST00000565038.1:c.86+2624dup
ENST00000568219.5:c.435dup	ENSP00000454703.2:p.Lys146Ter
NM_024675.3:c.1320dup , LRG_308t1:c.1320dup	NP_078951.2:p.Lys441Ter
XM_011545946.1:c.1326dup	XP_011544248.1:p.Lys443Ter
XM_011545947.1:c.1326dup	XP_011544249.1:p.Lys443Ter
XM_011545948.1:c.435dup	XP_011544250.1:p.Lys146Ter
XR_950851.1:n.2116dup
XM_011545946.2:c.1326dup	XP_011544248.1:p.Lys443Ter
XM_011545947.2:c.1326dup	XP_011544249.1:p.Lys443Ter
XM_011545948.2:c.435dup	XP_011544250.1:p.Lys146Ter
XM_017023671.1:c.1326dup	XP_016879160.1:p.Lys443Ter
XM_017023672.2:c.1320dup	XP_016879161.1:p.Lys441Ter
XM_017023673.2:c.1320dup	XP_016879162.1:p.Lys441Ter
NM_024675.4:c.1320dup MANE Select	NP_078951.2:p.Lys441Ter