Canonical Allele Identifier: CA2740093279

Gene: PALB2

Linked Data

• ClinVar Variation Id: 3027379
• ClinVar RCV Id: RCV003887772

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23626331_23626332delinsA , CM000678.2:g.23626331_23626332delinsA	GRCh38
NC_000016.9:g.23637652_23637653delinsA , CM000678.1:g.23637652_23637653delinsA	GRCh37
NC_000016.8:g.23545153_23545154delinsA	NCBI36
NG_007406.1:g.20026_20027delinsT , LRG_308:g.20026_20027delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2658_2659delinsT	ENSP00000460666.3:p.Glu886AspfsTer5
ENST00000565038.2:c.*133_*134delinsT	ENSP00000459882.2:n.*133_*134delinsT
ENST00000566069.6:c.2652_2653delinsT	ENSP00000459237.2:p.Glu884AspfsTer5
ENST00000697377.2:c.2593-2238_2593-2237delinsT	ENSP00000513286.2:n.2593-2238_2593-2237delinsT
ENST00000697379.2:c.2658_2659delinsT	ENSP00000513287.2:p.Glu886AspfsTer5
ENST00000561514.2:c.1767_1768delinsT	ENSP00000460666.2:p.Glu589AspfsTer5
ENST00000697374.1:c.1767_1768delinsT	ENSP00000513284.1:p.Glu589AspfsTer5
ENST00000697375.1:n.3999_4000delinsT
ENST00000697376.1:c.1767_1768delinsT	ENSP00000513285.1:p.Glu589AspfsTer5
ENST00000697377.1:c.1702-2238_1702-2237delinsT	ENSP00000513286.1:n.1702-2238_1702-2237delinsT
ENST00000697378.1:n.3172_3173delinsT
ENST00000697379.1:c.1767_1768delinsT	ENSP00000513287.1:p.Glu589AspfsTer5
ENST00000697380.1:n.1944_1945delinsT
ENST00000697381.1:n.1347_1348delinsT
ENST00000697382.1:c.1767_1768delinsT	ENSP00000513288.1:p.Glu589AspfsTer5
ENST00000697383.1:c.186_187delinsT	ENSP00000513289.1:p.Glu62AspfsTer5
ENST00000261584.9:c.2652_2653delinsT MANE Select	ENSP00000261584.4:p.Glu884AspfsTer5
ENST00000261584.8:c.2652_2653delinsT	ENSP00000261584.4:p.Glu884AspfsTer5
ENST00000565038.1:c.224_225delinsT
ENST00000568219.5:c.1767_1768delinsT	ENSP00000454703.2:p.Glu589AspfsTer5
NM_024675.3:c.2652_2653delinsT , LRG_308t1:c.2652_2653delinsT	NP_078951.2:p.Glu884AspfsTer5
XM_011545946.1:c.2658_2659delinsT	XP_011544248.1:p.Glu886AspfsTer5
XM_011545947.1:c.2658_2659delinsT	XP_011544249.1:p.Glu886AspfsTer5
XM_011545948.1:c.1767_1768delinsT	XP_011544250.1:p.Glu589AspfsTer5
XR_950851.1:n.3448_3449delinsT
XM_011545946.2:c.2658_2659delinsT	XP_011544248.1:p.Glu886AspfsTer5
XM_011545947.2:c.2658_2659delinsT	XP_011544249.1:p.Glu886AspfsTer5
XM_011545948.2:c.1767_1768delinsT	XP_011544250.1:p.Glu589AspfsTer5
XM_017023671.1:c.2658_2659delinsT	XP_016879160.1:p.Glu886AspfsTer5
XM_017023672.2:c.2652_2653delinsT	XP_016879161.1:p.Glu884AspfsTer5
XM_017023673.2:c.2652_2653delinsT	XP_016879162.1:p.Glu884AspfsTer5
NM_024675.4:c.2652_2653delinsT MANE Select	NP_078951.2:p.Glu884AspfsTer5