Canonical Allele Identifier: CA2573147088
Gene: PIDD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.800375_800379del , CM000673.2:g.800375_800379del GRCh38
NC_000011.9:g.800375_800379del , CM000673.1:g.800375_800379del GRCh37
NC_000011.8:g.790375_790379del NCBI36
NG_023407.1:g.2893_2897del

Transcript Alleles

HGVS Amino-acid Change
NM_145886.4:c.2116_2120del MANE Select NP_665893.2:p.Val706HisfsTer30
ENST00000347755.10:c.2116_2120del MANE Select ENSP00000337797.5:p.Val706HisfsTer30
NM_145886.3:c.2116_2120del NP_665893.2:p.Val706HisfsTer30
NM_145887.3:c.2109+7_2109+11del NP_665894.2:n.2109+7_2109+11del
NM_145887.4:c.2109+7_2109+11del NP_665894.2:n.2109+7_2109+11del
ENST00000347755.9:c.2116_2120del ENSP00000337797.5:p.Val706HisfsTer30
ENST00000411829.6:c.2109+7_2109+11del ENSP00000416801.2:n.2109+7_2109+11del
ENST00000524486.5:c.*2131_*2135del ENSP00000436146.1:n.*2131_*2135del
ENST00000525028.6:c.*1816_*1820del ENSP00000436342.1:n.*1816_*1820del
ENST00000527357.5:n.3436+7_3436+11del
ENST00000527812.1:n.333-903_333-899del
ENST00000531286.5:c.1242+7_1242+11del
ENST00000534525.5:n.3139_3143del
ENST00000534649.2:c.*1812_*1816del ENSP00000508317.1:n.*1812_*1816del
XM_005253005.3:c.2188_2192del XP_005253062.1:p.Val730HisfsTer30
XM_005253005.5:c.2188_2192del XP_005253062.1:p.Val730HisfsTer30
XM_005253006.3:c.2188_2192del XP_005253063.1:p.Val730HisfsTer30
XM_005253006.5:c.2188_2192del XP_005253063.1:p.Val730HisfsTer30
XM_005253007.3:c.2188_2192del XP_005253064.1:p.Val730HisfsTer30
XM_005253007.4:c.2188_2192del XP_005253064.1:p.Val730HisfsTer30
XM_005253008.3:c.1750_1754del XP_005253065.1:p.Val584HisfsTer30
XM_005253008.5:c.1750_1754del XP_005253065.1:p.Val584HisfsTer30
XM_011520209.1:c.2190+7_2190+11del XP_011518511.1:n.2190+7_2190+11del
XM_011520209.3:c.2190+7_2190+11del XP_011518511.1:n.2190+7_2190+11del
XM_011520210.1:c.2116_2120del XP_011518512.1:p.Val706HisfsTer30
XM_011520210.3:c.2116_2120del XP_011518512.1:p.Val706HisfsTer30
XM_011520211.1:c.2109+7_2109+11del XP_011518513.1:n.2109+7_2109+11del
XM_011520211.3:c.2109+7_2109+11del XP_011518513.1:n.2109+7_2109+11del
XM_011520212.1:c.1750_1754del XP_011518514.1:p.Val584HisfsTer30
XM_011520212.2:c.1750_1754del XP_011518514.1:p.Val584HisfsTer30
XM_011520213.1:c.1249_1253del XP_011518515.1:p.Val417HisfsTer30
XM_011520213.2:c.1249_1253del XP_011518515.1:p.Val417HisfsTer30
XM_017017993.2:c.1177_1181del XP_016873482.1:p.Val393HisfsTer30
XR_001747921.1:n.2167+7_2167+11del
XR_001747922.2:n.2670_2674del
XR_930877.1:n.2174_2178del