Canonical Allele Identifier: CA913188768

Gene: PALB2

Linked Data

• ClinVar Variation Id: 926893
• ClinVar RCV Id: RCV001189799 ; RCV001800962
• dbSNP Id: rs1966863209

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630214_23630215insA , CM000678.2:g.23630214_23630215insA	GRCh38
NC_000016.9:g.23641535_23641536insA , CM000678.1:g.23641535_23641536insA	GRCh37
NC_000016.8:g.23549036_23549037insA	NCBI36
NG_007406.1:g.16143_16144insT , LRG_308:g.16143_16144insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1945_1946insT	ENSP00000460666.3:p.His649LeufsTer3
ENST00000565038.2:c.212-940_212-939insT	ENSP00000459882.2:n.212-940_212-939insT
ENST00000566069.6:c.1939_1940insT	ENSP00000459237.2:p.His647LeufsTer3
ENST00000697377.2:c.1945_1946insT	ENSP00000513286.2:p.His649LeufsTer3
ENST00000697379.2:c.1945_1946insT	ENSP00000513287.2:p.His649LeufsTer3
ENST00000561514.2:c.1054_1055insT	ENSP00000460666.2:p.His352LeufsTer3
ENST00000697374.1:c.1054_1055insT	ENSP00000513284.1:p.His352LeufsTer3
ENST00000697375.1:n.3286_3287insT
ENST00000697376.1:c.1054_1055insT	ENSP00000513285.1:p.His352LeufsTer3
ENST00000697377.1:c.1054_1055insT	ENSP00000513286.1:p.His352LeufsTer3
ENST00000697378.1:n.2459_2460insT
ENST00000697379.1:c.1054_1055insT	ENSP00000513287.1:p.His352LeufsTer3
ENST00000697380.1:n.867_868insT
ENST00000697381.1:n.634_635insT
ENST00000697382.1:c.1054_1055insT	ENSP00000513288.1:p.His352LeufsTer3
ENST00000697383.1:c.49-940_49-939insT	ENSP00000513289.1:n.49-940_49-939insT
ENST00000697384.1:n.2093_2094insT
ENST00000261584.9:c.1939_1940insT MANE Select	ENSP00000261584.4:p.His647LeufsTer3
ENST00000261584.8:c.1939_1940insT	ENSP00000261584.4:p.His647LeufsTer3
ENST00000565038.1:c.87-940_87-939insT
ENST00000568219.5:c.1054_1055insT	ENSP00000454703.2:p.His352LeufsTer3
NM_024675.3:c.1939_1940insT , LRG_308t1:c.1939_1940insT	NP_078951.2:p.His647LeufsTer3
XM_011545946.1:c.1945_1946insT	XP_011544248.1:p.His649LeufsTer3
XM_011545947.1:c.1945_1946insT	XP_011544249.1:p.His649LeufsTer3
XM_011545948.1:c.1054_1055insT	XP_011544250.1:p.His352LeufsTer3
XR_950851.1:n.2735_2736insT
XM_011545946.2:c.1945_1946insT	XP_011544248.1:p.His649LeufsTer3
XM_011545947.2:c.1945_1946insT	XP_011544249.1:p.His649LeufsTer3
XM_011545948.2:c.1054_1055insT	XP_011544250.1:p.His352LeufsTer3
XM_017023671.1:c.1945_1946insT	XP_016879160.1:p.His649LeufsTer3
XM_017023672.2:c.1939_1940insT	XP_016879161.1:p.His647LeufsTer3
XM_017023673.2:c.1939_1940insT	XP_016879162.1:p.His647LeufsTer3
NM_024675.4:c.1939_1940insT MANE Select	NP_078951.2:p.His647LeufsTer3