Canonical Allele Identifier: CA2213432563
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23614080G= , CM000678.2:g.23614080G= GRCh38
NC_000016.9:g.23625401G= , CM000678.1:g.23625401G= GRCh37
NC_000016.8:g.23532902G= NCBI36
NG_007406.1:g.32278C= , LRG_308:g.32278C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3131C= ENSP00000460666.3:p.Thr1044=
ENST00000565038.2:c.*606C= ENSP00000459882.2:n.*606C=
ENST00000566069.6:c.3125C= ENSP00000459237.2:p.Thr1042=
ENST00000697377.2:c.2969C= ENSP00000513286.2:p.Thr990=
ENST00000697379.2:c.3131C= ENSP00000513287.2:p.Thr1044=
ENST00000561514.2:c.2240C= ENSP00000460666.2:p.Thr747=
ENST00000697374.1:c.2240C= ENSP00000513284.1:p.Thr747=
ENST00000697375.1:n.4472C=
ENST00000697376.1:c.2240C= ENSP00000513285.1:p.Thr747=
ENST00000697377.1:c.2078C= ENSP00000513286.1:p.Thr693=
ENST00000697378.1:n.3645C=
ENST00000697379.1:c.2240C= ENSP00000513287.1:p.Thr747=
ENST00000697380.1:n.2406-6068C=
ENST00000697381.1:n.1820C=
ENST00000697382.1:c.2229-6068C= ENSP00000513288.1:n.2229-6068C=
ENST00000697383.1:c.659C= ENSP00000513289.1:p.Thr220=
ENST00000261584.9:c.3125C= MANE Select ENSP00000261584.4:p.Thr1042=
ENST00000261584.8:c.3125C= ENSP00000261584.4:p.Thr1042=
ENST00000566069.5:c.40C=
ENST00000568219.5:c.2240C= ENSP00000454703.2:p.Thr747=
NM_024675.3:c.3125C= , LRG_308t1:c.3125C= NP_078951.2:p.Thr1042=
XM_011545946.1:c.3131C= XP_011544248.1:p.Thr1044=
XM_011545947.1:c.3131C= XP_011544249.1:p.Thr1044=
XM_011545948.1:c.2240C= XP_011544250.1:p.Thr747=
XR_950851.1:n.3910-6068C=
XM_011545946.2:c.3131C= XP_011544248.1:p.Thr1044=
XM_011545947.2:c.3131C= XP_011544249.1:p.Thr1044=
XM_011545948.2:c.2240C= XP_011544250.1:p.Thr747=
XM_017023671.1:c.3119+7282C= XP_016879160.1:n.3119+7282C=
XM_017023672.2:c.3113+7282C= XP_016879161.1:n.3113+7282C=
XM_017023673.2:c.3125C= XP_016879162.1:p.Thr1042=
NM_024675.4:c.3125C= MANE Select NP_078951.2:p.Thr1042=