Canonical Allele Identifier: CA395138099
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603569G>T , CM000678.2:g.23603569G>T GRCh38
NC_000016.9:g.23614890G>T , CM000678.1:g.23614890G>T GRCh37
NC_000016.8:g.23522391G>T NCBI36
NG_007406.1:g.42789C>A , LRG_308:g.42789C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3457C>A ENSP00000460666.3:p.Leu1153Ile
ENST00000565038.2:c.*936C>A ENSP00000459882.2:n.*936C>A
ENST00000566069.6:c.*86C>A ENSP00000459237.2:n.*86C>A
ENST00000697377.2:c.3295C>A ENSP00000513286.2:p.Leu1099Ile
ENST00000697379.2:c.3457C>A ENSP00000513287.2:p.Leu1153Ile
ENST00000561514.2:c.2566C>A ENSP00000460666.2:p.Leu856Ile
ENST00000697374.1:c.2566C>A ENSP00000513284.1:p.Leu856Ile
ENST00000697375.1:n.4798C>A
ENST00000697376.1:c.*86C>A ENSP00000513285.1:n.*86C>A
ENST00000697377.1:c.2404C>A ENSP00000513286.1:p.Leu802Ile
ENST00000697378.1:n.3971C>A
ENST00000697379.1:c.2566C>A ENSP00000513287.1:p.Leu856Ile
ENST00000697380.1:n.2655C>A
ENST00000697381.1:n.2146C>A
ENST00000697382.1:c.*228C>A ENSP00000513288.1:n.*228C>A
ENST00000697383.1:c.985C>A ENSP00000513289.1:p.Leu329Ile
ENST00000261584.9:c.3451C>A MANE Select ENSP00000261584.4:p.Leu1151Ile
ENST00000261584.8:c.3451C>A ENSP00000261584.4:p.Leu1151Ile
ENST00000566069.5:c.217C>A
ENST00000568219.5:c.2566C>A ENSP00000454703.2:p.Leu856Ile
NM_024675.3:c.3451C>A , LRG_308t1:c.3451C>A NP_078951.2:p.Leu1151Ile
XM_011545946.1:c.3457C>A XP_011544248.1:p.Leu1153Ile
XM_011545947.1:c.*86C>A XP_011544249.1:n.*86C>A
XM_011545948.1:c.2566C>A XP_011544250.1:p.Leu856Ile
XR_950851.1:n.4159C>A
XM_011545946.2:c.3457C>A XP_011544248.1:p.Leu1153Ile
XM_011545947.2:c.*86C>A XP_011544249.1:n.*86C>A
XM_011545948.2:c.2566C>A XP_011544250.1:p.Leu856Ile
XM_017023671.1:c.3220C>A XP_016879160.1:p.Leu1074Ile
XM_017023672.2:c.3214C>A XP_016879161.1:p.Leu1072Ile
XM_017023673.2:c.*86C>A XP_016879162.1:n.*86C>A
NM_024675.4:c.3451C>A MANE Select NP_078951.2:p.Leu1151Ile