Canonical Allele Identifier: CA395143035
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621427A>T , CM000678.2:g.23621427A>T GRCh38
NC_000016.9:g.23632748A>T , CM000678.1:g.23632748A>T GRCh37
NC_000016.8:g.23540249A>T NCBI36
NG_007406.1:g.24931T>A , LRG_308:g.24931T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3054T>A ENSP00000460666.3:p.Phe1018Leu
ENST00000565038.2:c.*529T>A ENSP00000459882.2:n.*529T>A
ENST00000566069.6:c.3048T>A ENSP00000459237.2:p.Phe1016Leu
ENST00000697377.2:c.2892T>A ENSP00000513286.2:p.Phe964Leu
ENST00000697379.2:c.3054T>A ENSP00000513287.2:p.Phe1018Leu
ENST00000561514.2:c.2163T>A ENSP00000460666.2:p.Phe721Leu
ENST00000697374.1:c.2163T>A ENSP00000513284.1:p.Phe721Leu
ENST00000697375.1:n.4395T>A
ENST00000697376.1:c.2163T>A ENSP00000513285.1:p.Phe721Leu
ENST00000697377.1:c.2001T>A ENSP00000513286.1:p.Phe667Leu
ENST00000697378.1:n.3568T>A
ENST00000697379.1:c.2163T>A ENSP00000513287.1:p.Phe721Leu
ENST00000697380.1:n.2340T>A
ENST00000697381.1:n.1743T>A
ENST00000697382.1:c.2163T>A ENSP00000513288.1:p.Phe721Leu
ENST00000697383.1:c.582T>A ENSP00000513289.1:p.Phe194Leu
ENST00000261584.9:c.3048T>A MANE Select ENSP00000261584.4:p.Phe1016Leu
ENST00000261584.8:c.3048T>A ENSP00000261584.4:p.Phe1016Leu
ENST00000568219.5:c.2163T>A ENSP00000454703.2:p.Phe721Leu
NM_024675.3:c.3048T>A , LRG_308t1:c.3048T>A NP_078951.2:p.Phe1016Leu
XM_011545946.1:c.3054T>A XP_011544248.1:p.Phe1018Leu
XM_011545947.1:c.3054T>A XP_011544249.1:p.Phe1018Leu
XM_011545948.1:c.2163T>A XP_011544250.1:p.Phe721Leu
XR_950851.1:n.3844T>A
XM_011545946.2:c.3054T>A XP_011544248.1:p.Phe1018Leu
XM_011545947.2:c.3054T>A XP_011544249.1:p.Phe1018Leu
XM_011545948.2:c.2163T>A XP_011544250.1:p.Phe721Leu
XM_017023671.1:c.3054T>A XP_016879160.1:p.Phe1018Leu
XM_017023672.2:c.3048T>A XP_016879161.1:p.Phe1016Leu
XM_017023673.2:c.3048T>A XP_016879162.1:p.Phe1016Leu
NM_024675.4:c.3048T>A MANE Select NP_078951.2:p.Phe1016Leu