Canonical Allele Identifier: CA2213428985

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1037155
• ClinVar RCV Id: RCV001340266
• dbSNP Id: rs1306677139

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635384_23635386dup , CM000678.2:g.23635384_23635386dup	GRCh38
NC_000016.9:g.23646705_23646707dup , CM000678.1:g.23646705_23646707dup	GRCh37
NC_000016.8:g.23554206_23554208dup	NCBI36
NG_007406.1:g.10975_10977dup , LRG_308:g.10975_10977dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1169_1171dup	ENSP00000460666.3:p.Pro390_Leu391insPro
ENST00000565038.2:c.211+2467_211+2469dup	ENSP00000459882.2:n.211+2467_211+2469dup
ENST00000566069.6:c.1163_1165dup	ENSP00000459237.2:p.Pro388_Leu389insPro
ENST00000697377.2:c.1169_1171dup	ENSP00000513286.2:p.Pro390_Leu391insPro
ENST00000697379.2:c.1169_1171dup	ENSP00000513287.2:p.Pro390_Leu391insPro
ENST00000561514.2:c.278_280dup	ENSP00000460666.2:p.Pro93_Leu94insPro
ENST00000697374.1:c.278_280dup	ENSP00000513284.1:p.Pro93_Leu94insPro
ENST00000697375.1:n.2510_2512dup
ENST00000697376.1:c.278_280dup	ENSP00000513285.1:p.Pro93_Leu94insPro
ENST00000697377.1:c.278_280dup	ENSP00000513286.1:p.Pro93_Leu94insPro
ENST00000697378.1:n.1683_1685dup
ENST00000697379.1:c.278_280dup	ENSP00000513287.1:p.Pro93_Leu94insPro
ENST00000697382.1:c.278_280dup	ENSP00000513288.1:p.Pro93_Leu94insPro
ENST00000697383.1:c.48+5727_48+5729dup	ENSP00000513289.1:n.48+5727_48+5729dup
ENST00000697384.1:n.1317_1319dup
ENST00000261584.9:c.1163_1165dup MANE Select	ENSP00000261584.4:p.Pro388_Leu389insPro
ENST00000261584.8:c.1163_1165dup	ENSP00000261584.4:p.Pro388_Leu389insPro
ENST00000565038.1:c.86+2467_86+2469dup
ENST00000568219.5:c.278_280dup	ENSP00000454703.2:p.Pro93_Leu94insPro
NM_024675.3:c.1163_1165dup , LRG_308t1:c.1163_1165dup	NP_078951.2:p.Pro388_Leu389insPro
XM_011545946.1:c.1169_1171dup	XP_011544248.1:p.Pro390_Leu391insPro
XM_011545947.1:c.1169_1171dup	XP_011544249.1:p.Pro390_Leu391insPro
XM_011545948.1:c.278_280dup	XP_011544250.1:p.Pro93_Leu94insPro
XR_950851.1:n.1959_1961dup
XM_011545946.2:c.1169_1171dup	XP_011544248.1:p.Pro390_Leu391insPro
XM_011545947.2:c.1169_1171dup	XP_011544249.1:p.Pro390_Leu391insPro
XM_011545948.2:c.278_280dup	XP_011544250.1:p.Pro93_Leu94insPro
XM_017023671.1:c.1169_1171dup	XP_016879160.1:p.Pro390_Leu391insPro
XM_017023672.2:c.1163_1165dup	XP_016879161.1:p.Pro388_Leu389insPro
XM_017023673.2:c.1163_1165dup	XP_016879162.1:p.Pro388_Leu389insPro
NM_024675.4:c.1163_1165dup MANE Select	NP_078951.2:p.Pro388_Leu389insPro