Canonical Allele Identifier: CA658683915

Gene: PALB2

Linked Data

• ClinVar Variation Id: 492143
• ClinVar RCV Id: RCV000581296 ; RCV000709749 ; RCV003328606
• dbSNP Id: rs1555461488
• gnomAD v4: 16-23635512-A-AAG
• MyVariant Identifiers: chr16:g.23646834_23646835dup (hg19) ; chr16:g.23635513_23635514dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635513_23635514dup , CM000678.2:g.23635513_23635514dup	GRCh38
NC_000016.9:g.23646834_23646835dup , CM000678.1:g.23646834_23646835dup	GRCh37
NC_000016.8:g.23554335_23554336dup	NCBI36
NG_007406.1:g.10844_10845dup , LRG_308:g.10844_10845dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1038_1039dup	ENSP00000460666.3:p.Leu347SerfsTer2
ENST00000565038.2:c.211+2336_211+2337dup	ENSP00000459882.2:n.211+2336_211+2337dup
ENST00000566069.6:c.1032_1033dup	ENSP00000459237.2:p.Leu345SerfsTer2
ENST00000697377.2:c.1038_1039dup	ENSP00000513286.2:p.Leu347SerfsTer2
ENST00000697379.2:c.1038_1039dup	ENSP00000513287.2:p.Leu347SerfsTer2
ENST00000561514.2:c.147_148dup	ENSP00000460666.2:p.Leu50SerfsTer2
ENST00000697374.1:c.147_148dup	ENSP00000513284.1:p.Leu50SerfsTer2
ENST00000697375.1:n.2379_2380dup
ENST00000697376.1:c.147_148dup	ENSP00000513285.1:p.Leu50SerfsTer2
ENST00000697377.1:c.147_148dup	ENSP00000513286.1:p.Leu50SerfsTer2
ENST00000697378.1:n.1552_1553dup
ENST00000697379.1:c.147_148dup	ENSP00000513287.1:p.Leu50SerfsTer2
ENST00000697382.1:c.147_148dup	ENSP00000513288.1:p.Leu50SerfsTer2
ENST00000697383.1:c.48+5596_48+5597dup	ENSP00000513289.1:n.48+5596_48+5597dup
ENST00000697384.1:n.1186_1187dup
ENST00000261584.9:c.1032_1033dup MANE Select	ENSP00000261584.4:p.Leu345SerfsTer2
ENST00000261584.8:c.1032_1033dup	ENSP00000261584.4:p.Leu345SerfsTer2
ENST00000565038.1:c.86+2336_86+2337dup
ENST00000568219.5:c.147_148dup	ENSP00000454703.2:p.Leu50SerfsTer2
NM_024675.3:c.1032_1033dup , LRG_308t1:c.1032_1033dup	NP_078951.2:p.Leu345SerfsTer2
XM_011545946.1:c.1038_1039dup	XP_011544248.1:p.Leu347SerfsTer2
XM_011545947.1:c.1038_1039dup	XP_011544249.1:p.Leu347SerfsTer2
XM_011545948.1:c.147_148dup	XP_011544250.1:p.Leu50SerfsTer2
XR_950851.1:n.1828_1829dup
XM_011545946.2:c.1038_1039dup	XP_011544248.1:p.Leu347SerfsTer2
XM_011545947.2:c.1038_1039dup	XP_011544249.1:p.Leu347SerfsTer2
XM_011545948.2:c.147_148dup	XP_011544250.1:p.Leu50SerfsTer2
XM_017023671.1:c.1038_1039dup	XP_016879160.1:p.Leu347SerfsTer2
XM_017023672.2:c.1032_1033dup	XP_016879161.1:p.Leu345SerfsTer2
XM_017023673.2:c.1032_1033dup	XP_016879162.1:p.Leu345SerfsTer2
NM_024675.4:c.1032_1033dup MANE Select	NP_078951.2:p.Leu345SerfsTer2