Canonical Allele Identifier: CA395141453
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23614083T>A , CM000678.2:g.23614083T>A GRCh38
NC_000016.9:g.23625404T>A , CM000678.1:g.23625404T>A GRCh37
NC_000016.8:g.23532905T>A NCBI36
NG_007406.1:g.32275A>T , LRG_308:g.32275A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3128A>T ENSP00000460666.3:p.Lys1043Ile
ENST00000565038.2:c.*603A>T ENSP00000459882.2:n.*603A>T
ENST00000566069.6:c.3122A>T ENSP00000459237.2:p.Lys1041Ile
ENST00000697377.2:c.2966A>T ENSP00000513286.2:p.Lys989Ile
ENST00000697379.2:c.3128A>T ENSP00000513287.2:p.Lys1043Ile
ENST00000561514.2:c.2237A>T ENSP00000460666.2:p.Lys746Ile
ENST00000697374.1:c.2237A>T ENSP00000513284.1:p.Lys746Ile
ENST00000697375.1:n.4469A>T
ENST00000697376.1:c.2237A>T ENSP00000513285.1:p.Lys746Ile
ENST00000697377.1:c.2075A>T ENSP00000513286.1:p.Lys692Ile
ENST00000697378.1:n.3642A>T
ENST00000697379.1:c.2237A>T ENSP00000513287.1:p.Lys746Ile
ENST00000697380.1:n.2406-6071A>T
ENST00000697381.1:n.1817A>T
ENST00000697382.1:c.2229-6071A>T ENSP00000513288.1:n.2229-6071A>T
ENST00000697383.1:c.656A>T ENSP00000513289.1:p.Lys219Ile
ENST00000261584.9:c.3122A>T MANE Select ENSP00000261584.4:p.Lys1041Ile
ENST00000261584.8:c.3122A>T ENSP00000261584.4:p.Lys1041Ile
ENST00000566069.5:c.37A>T
ENST00000568219.5:c.2237A>T ENSP00000454703.2:p.Lys746Ile
NM_024675.3:c.3122A>T , LRG_308t1:c.3122A>T NP_078951.2:p.Lys1041Ile
XM_011545946.1:c.3128A>T XP_011544248.1:p.Lys1043Ile
XM_011545947.1:c.3128A>T XP_011544249.1:p.Lys1043Ile
XM_011545948.1:c.2237A>T XP_011544250.1:p.Lys746Ile
XR_950851.1:n.3910-6071A>T
XM_011545946.2:c.3128A>T XP_011544248.1:p.Lys1043Ile
XM_011545947.2:c.3128A>T XP_011544249.1:p.Lys1043Ile
XM_011545948.2:c.2237A>T XP_011544250.1:p.Lys746Ile
XM_017023671.1:c.3119+7279A>T XP_016879160.1:n.3119+7279A>T
XM_017023672.2:c.3113+7279A>T XP_016879161.1:n.3113+7279A>T
XM_017023673.2:c.3122A>T XP_016879162.1:p.Lys1041Ile
NM_024675.4:c.3122A>T MANE Select NP_078951.2:p.Lys1041Ile