Canonical Allele Identifier: CA2499223446

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1171317
• ClinVar RCV Id: RCV001524303
• dbSNP Id: rs2142481231

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641132_23641134dup , CM000678.2:g.23641132_23641134dup	GRCh38
NC_000016.9:g.23652453_23652455dup , CM000678.1:g.23652453_23652455dup	GRCh37
NC_000016.8:g.23559954_23559956dup	NCBI36
NG_007406.1:g.5225_5227dup , LRG_308:g.5225_5227dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-828_-826dup	ENSP00000460666.3:n.-828_-826dup
ENST00000565038.2:c.25_27dup	ENSP00000459882.2:p.Leu9_Ser10insLeu
ENST00000566069.6:c.25_27dup	ENSP00000459237.2:p.Leu9_Ser10insLeu
ENST00000697377.2:c.-215_-213dup	ENSP00000513286.2:n.-215_-213dup
ENST00000697379.2:c.-121_-119dup	ENSP00000513287.2:n.-121_-119dup
ENST00000561514.2:c.-1719_-1717dup	ENSP00000460666.2:n.-1719_-1717dup
ENST00000697374.1:c.-1310_-1308dup	ENSP00000513284.1:n.-1310_-1308dup
ENST00000697376.1:c.-1031_-1029dup	ENSP00000513285.1:n.-1031_-1029dup
ENST00000697377.1:c.-1106_-1104dup	ENSP00000513286.1:n.-1106_-1104dup
ENST00000697379.1:c.-1012_-1010dup	ENSP00000513287.1:n.-1012_-1010dup
ENST00000697382.1:c.-1770_-1768dup	ENSP00000513288.1:n.-1770_-1768dup
ENST00000697383.1:c.25_27dup	ENSP00000513289.1:p.Leu9_Ser10insLeu
ENST00000697384.1:n.179_181dup
ENST00000261584.9:c.25_27dup MANE Select	ENSP00000261584.4:p.Leu9_Ser10insLeu
ENST00000261584.8:c.25_27dup	ENSP00000261584.4:p.Leu9_Ser10insLeu
ENST00000567003.1:n.169_171dup
ENST00000568219.5:c.-844_-842dup	ENSP00000454703.2:n.-844_-842dup
NM_024675.3:c.25_27dup , LRG_308t1:c.25_27dup	NP_078951.2:p.Leu9_Ser10insLeu
XM_011545948.1:c.-995_-993dup	XP_011544250.1:n.-995_-993dup
XM_011545946.2:c.-828_-826dup	XP_011544248.1:n.-828_-826dup
XM_011545947.2:c.-828_-826dup	XP_011544249.1:n.-828_-826dup
XM_011545948.2:c.-995_-993dup	XP_011544250.1:n.-995_-993dup
XM_017023671.1:c.-828_-826dup	XP_016879160.1:n.-828_-826dup
XM_017023672.2:c.25_27dup	XP_016879161.1:p.Leu9_Ser10insLeu
XM_017023673.2:c.25_27dup	XP_016879162.1:p.Leu9_Ser10insLeu
NM_024675.4:c.25_27dup MANE Select	NP_078951.2:p.Leu9_Ser10insLeu