Canonical Allele Identifier: CA10579910
Gene: PALB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603476C>G , CM000678.2:g.23603476C>G GRCh38
NC_000016.9:g.23614797C>G , CM000678.1:g.23614797C>G GRCh37
NC_000016.8:g.23522298C>G NCBI36
NG_007406.1:g.42882G>C , LRG_308:g.42882G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3550G>C ENSP00000460666.3:p.Val1184Leu
ENST00000565038.2:c.*1029G>C ENSP00000459882.2:n.*1029G>C
ENST00000566069.6:c.*179G>C ENSP00000459237.2:n.*179G>C
ENST00000697377.2:c.3388G>C ENSP00000513286.2:p.Val1130Leu
ENST00000697379.2:c.3550G>C ENSP00000513287.2:p.Val1184Leu
ENST00000561514.2:c.2659G>C ENSP00000460666.2:p.Val887Leu
ENST00000697374.1:c.2659G>C ENSP00000513284.1:p.Val887Leu
ENST00000697375.1:n.4891G>C
ENST00000697376.1:c.*179G>C ENSP00000513285.1:n.*179G>C
ENST00000697377.1:c.2497G>C ENSP00000513286.1:p.Val833Leu
ENST00000697378.1:n.4064G>C
ENST00000697379.1:c.2659G>C ENSP00000513287.1:p.Val887Leu
ENST00000697380.1:n.2748G>C
ENST00000697381.1:n.2239G>C
ENST00000697382.1:c.*321G>C ENSP00000513288.1:n.*321G>C
ENST00000697383.1:c.1078G>C ENSP00000513289.1:p.Val360Leu
ENST00000261584.9:c.3544G>C MANE Select ENSP00000261584.4:p.Val1182Leu
ENST00000261584.8:c.3544G>C ENSP00000261584.4:p.Val1182Leu
ENST00000566069.5:c.310G>C
ENST00000568219.5:c.2659G>C ENSP00000454703.2:p.Val887Leu
NM_024675.3:c.3544G>C , LRG_308t1:c.3544G>C NP_078951.2:p.Val1182Leu
XM_011545946.1:c.3550G>C XP_011544248.1:p.Val1184Leu
XM_011545947.1:c.*179G>C XP_011544249.1:n.*179G>C
XM_011545948.1:c.2659G>C XP_011544250.1:p.Val887Leu
XR_950851.1:n.4252G>C
XM_011545946.2:c.3550G>C XP_011544248.1:p.Val1184Leu
XM_011545947.2:c.*179G>C XP_011544249.1:n.*179G>C
XM_011545948.2:c.2659G>C XP_011544250.1:p.Val887Leu
XM_017023671.1:c.3313G>C XP_016879160.1:p.Val1105Leu
XM_017023672.2:c.3307G>C XP_016879161.1:p.Val1103Leu
XM_017023673.2:c.*179G>C XP_016879162.1:n.*179G>C
NM_024675.4:c.3544G>C MANE Select NP_078951.2:p.Val1182Leu
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