Canonical Allele Identifier: CA2499223397
Community Standard Title: NM_024675.4(PALB2):c.3523_3529delinsAAAAAAAAA (p.Gln1175LysfsTer17)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603491_23603497delinsTTTTTTTTT , CM000678.2:g.23603491_23603497delinsTTTTTTTTT GRCh38
NC_000016.9:g.23614812_23614818delinsTTTTTTTTT , CM000678.1:g.23614812_23614818delinsTTTTTTTTT GRCh37
NC_000016.8:g.23522313_23522319delinsTTTTTTTTT NCBI36
NG_007406.1:g.42861_42867delinsAAAAAAAAA , LRG_308:g.42861_42867delinsAAAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.3523_3529delinsAAAAAAAAA MANE Select NP_078951.2:p.Gln1175LysfsTer17
ENST00000261584.9:c.3523_3529delinsAAAAAAAAA MANE Select ENSP00000261584.4:p.Gln1175LysfsTer17
NM_024675.3:c.3523_3529delinsAAAAAAAAA , LRG_308t1:c.3523_3529delinsAAAAAAAAA NP_078951.2:p.Gln1175LysfsTer17
ENST00000261584.8:c.3523_3529delinsAAAAAAAAA ENSP00000261584.4:p.Gln1175LysfsTer17
ENST00000561514.2:c.2638_2644delinsAAAAAAAAA ENSP00000460666.2:p.Gln880LysfsTer17
ENST00000561514.3:c.3529_3535delinsAAAAAAAAA ENSP00000460666.3:p.Gln1177LysfsTer17
ENST00000565038.2:c.*1008_*1014delinsAAAAAAAAA ENSP00000459882.2:n.*1008_*1014delinsAAAAAAAAA
ENST00000566069.5:c.289_295delinsAAAAAAAAA
ENST00000566069.6:c.*158_*164delinsAAAAAAAAA ENSP00000459237.2:n.*158_*164delinsAAAAAAAAA
ENST00000568219.5:c.2638_2644delinsAAAAAAAAA ENSP00000454703.2:p.Gln880LysfsTer17
ENST00000697374.1:c.2638_2644delinsAAAAAAAAA ENSP00000513284.1:p.Gln880LysfsTer17
ENST00000697375.1:n.4870_4876delinsAAAAAAAAA
ENST00000697376.1:c.*158_*164delinsAAAAAAAAA ENSP00000513285.1:n.*158_*164delinsAAAAAAAAA
ENST00000697377.1:c.2476_2482delinsAAAAAAAAA ENSP00000513286.1:p.Gln826LysfsTer17
ENST00000697377.2:c.3367_3373delinsAAAAAAAAA ENSP00000513286.2:p.Gln1123LysfsTer17
ENST00000697378.1:n.4043_4049delinsAAAAAAAAA
ENST00000697379.1:c.2638_2644delinsAAAAAAAAA ENSP00000513287.1:p.Gln880LysfsTer17
ENST00000697379.2:c.3529_3535delinsAAAAAAAAA ENSP00000513287.2:p.Gln1177LysfsTer17
ENST00000697380.1:n.2727_2733delinsAAAAAAAAA
ENST00000697381.1:n.2218_2224delinsAAAAAAAAA
ENST00000697382.1:c.*300_*306delinsAAAAAAAAA ENSP00000513288.1:n.*300_*306delinsAAAAAAAAA
ENST00000697383.1:c.1057_1063delinsAAAAAAAAA ENSP00000513289.1:p.Gln353LysfsTer17
XM_011545946.1:c.3529_3535delinsAAAAAAAAA XP_011544248.1:p.Gln1177LysfsTer17
XM_011545946.2:c.3529_3535delinsAAAAAAAAA XP_011544248.1:p.Gln1177LysfsTer17
XM_011545947.1:c.*158_*164delinsAAAAAAAAA XP_011544249.1:n.*158_*164delinsAAAAAAAAA
XM_011545947.2:c.*158_*164delinsAAAAAAAAA XP_011544249.1:n.*158_*164delinsAAAAAAAAA
XM_011545948.1:c.2638_2644delinsAAAAAAAAA XP_011544250.1:p.Gln880LysfsTer17
XM_011545948.2:c.2638_2644delinsAAAAAAAAA XP_011544250.1:p.Gln880LysfsTer17
XM_017023671.1:c.3292_3298delinsAAAAAAAAA XP_016879160.1:p.Gln1098LysfsTer17
XM_017023672.2:c.3286_3292delinsAAAAAAAAA XP_016879161.1:p.Gln1096LysfsTer17
XM_017023673.2:c.*158_*164delinsAAAAAAAAA XP_016879162.1:n.*158_*164delinsAAAAAAAAA
XR_950851.1:n.4231_4237delinsAAAAAAAAA