Linked Data
ClinVar Variation Id:
133319
ClinVar RCV Id:
RCV000119831
dbSNP Id:
rs587777416
PubMed:
PMID:24698316
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.83178680_83178682del , CM000668.2:g.83178680_83178682del | GRCh38 |
| NC_000006.11:g.83888399_83888401del , CM000668.1:g.83888399_83888401del | GRCh37 |
| NC_000006.10:g.83945118_83945120del | NCBI36 |
| NG_034146.1:g.20255_20257del | |
| NG_034146.2:g.20219_20221del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504780.6:c.788-2622_788-2620del | ENSP00000421154.2:n.788-2622_788-2620del | |
| ENST00000505470.6:c.*800_*802del | ENSP00000423769.1:n.*800_*802del | |
| ENST00000507554.2:c.1020_1022del | ENSP00000425558.2:p.Glu340_Val341delinsAs... | |
| ENST00000508748.6:c.1104_1106del | ENSP00000424865.2:p.Glu368_Val369delinsAs... | |
| ENST00000651204.2:c.787+3054_787+3056del | ENSP00000498912.2:n.787+3054_787+3056del | |
| ENST00000651698.2:c.788-2622_788-2620del | ENSP00000498398.2:n.788-2622_788-2620del | |
| ENST00000652222.2:c.1020_1022del | ENSP00000499141.2:p.Glu340_Val341delinsAs... | |
| ENST00000698524.1:c.1020_1022del | ENSP00000513773.1:p.Glu340_Val341delinsAs... | |
| ENST00000698525.1:c.205-4195_205-4193del | ENSP00000513774.1:n.205-4195_205-4193del | |
| ENST00000698526.1:c.1020_1022del | ENSP00000513775.1:p.Glu340_Val341delinsAs... | |
| ENST00000698599.1:c.1020_1022del | ENSP00000513827.1:p.Glu340_Val341delinsAs... | |
| ENST00000698600.1:c.788-2622_788-2620del | ENSP00000513828.1:n.788-2622_788-2620del | |
| ENST00000698601.1:c.*599_*601del | ENSP00000513829.1:n.*599_*601del | |
| ENST00000698602.1:c.1020_1022del | ENSP00000513830.1:p.Glu340_Val341delinsAs... | |
| ENST00000698603.1:c.*800_*802del | ENSP00000513831.1:n.*800_*802del | |
| ENST00000698604.1:c.*568-2622_*568-2620del | ENSP00000513832.1:n.*568-2622_*568-2620de... | |
| ENST00000698605.1:c.*800_*802del | ENSP00000513833.1:n.*800_*802del | |
| ENST00000698606.1:n.2879-2622_2879-2620del | ||
| ENST00000698607.1:c.788-2622_788-2620del | ENSP00000513834.1:n.788-2622_788-2620del | |
| ENST00000698608.1:c.777_779del | ENSP00000513835.1:p.Glu259_Val260delinsAs... | |
| ENST00000698609.1:c.*4_*6del | ENSP00000513836.1:n.*4_*6del | |
| ENST00000698610.1:c.777_779del | ENSP00000513837.1:p.Glu259_Val260delinsAs... | |
| ENST00000698611.1:n.4657_4659del | ||
| ENST00000698612.1:c.592-2622_592-2620del | ENSP00000513838.1:n.592-2622_592-2620del | |
| ENST00000698613.1:c.1020_1022del | ENSP00000513839.1:p.Glu340_Val341delinsAs... | |
| ENST00000698614.1:c.788-2622_788-2620del | ENSP00000513840.1:n.788-2622_788-2620del | |
| ENST00000698615.1:c.*619_*621del | ENSP00000513841.1:n.*619_*621del | |
| ENST00000698616.1:n.1109_1111del | ||
| ENST00000698617.1:n.1246_1248del | ||
| ENST00000698618.1:c.*800_*802del | ENSP00000513842.1:n.*800_*802del | |
| ENST00000698619.1:n.1109_1111del | ||
| ENST00000698620.1:c.788-2622_788-2620del | ENSP00000513843.1:n.788-2622_788-2620del | |
| ENST00000283977.9:c.777_779del | ENSP00000283977.5:p.Glu259_Val260delinsAs... | |
| ENST00000509219.2:c.1020_1022del | ENSP00000423389.2:p.Glu340_Val341delinsAs... | |
| ENST00000513973.6:c.1020_1022del MANE Select | ENSP00000424874.1:p.Glu340_Val341delinsAs... | |
| ENST00000616566.5:c.777_779del | ENSP00000477539.2:p.Glu259_Val260delinsAs... | |
| ENST00000650640.1:c.*4_*6del | ENSP00000498423.1:n.*4_*6del | |
| ENST00000650642.1:c.1020_1022del | ENSP00000498516.1:p.Glu340_Val341delinsAs... | |
| ENST00000651204.1:c.747+3054_747+3056del | ||
| ENST00000651425.1:c.777_779del | ENSP00000498986.1:p.Glu259_Val260delinsAs... | |
| ENST00000651698.1:c.144-2622_144-2620del | ||
| ENST00000652222.1:c.774_776del | ENSP00000499141.1:p.Glu258_Val259delinsAs... | |
| ENST00000652468.1:c.1020_1022del | ENSP00000499112.1:p.Glu340_Val341delinsAs... | |
| ENST00000283977.8:c.777_779del | ENSP00000283977.4:p.Glu259_Val260delinsAs... | |
| ENST00000506587.5:c.1104_1106del | ENSP00000425809.1:p.Glu368_Val369delinsAs... | |
| ENST00000512866.5:c.1020_1022del | ENSP00000421565.1:p.Glu340_Val341delinsAs... | |
| ENST00000513973.5:c.1020_1022del | ENSP00000424874.1:p.Glu340_Val341delinsAs... | |
| ENST00000616566.4:c.777_779del | ENSP00000477539.1:p.Glu259_Val260delinsAs... | |
| NM_001199917.1:c.1104_1106del | NP_001186846.1:p.Glu368_Val369delinsAsp | |
| NM_001199918.1:c.777_779del | NP_001186847.1:p.Glu259_Val260delinsAsp | |
| NM_001199919.1:c.1020_1022del | NP_001186848.1:p.Glu340_Val341delinsAsp | |
| NM_015599.2:c.1020_1022del | NP_056414.1:p.Glu340_Val341delinsAsp | |
| XM_011535901.1:c.1104_1106del | XP_011534203.1:p.Glu368_Val369delinsAsp | |
| XM_011535902.1:c.1104_1106del | XP_011534204.1:p.Glu368_Val369delinsAsp | |
| XM_011535903.1:c.1104_1106del | XP_011534205.1:p.Glu368_Val369delinsAsp | |
| XR_942476.1:n.1261_1263del | ||
| XR_942477.1:n.1246_1248del | ||
| XR_942478.1:n.1110_1112del | ||
| XR_942479.1:n.1136_1138del | ||
| XR_942480.1:n.904_906del | ||
| XM_017010935.1:c.777_779del | XP_016866424.1:p.Glu259_Val260delinsAsp | |
| XM_017010937.1:c.777_779del | XP_016866426.1:p.Glu259_Val260delinsAsp | |
| XM_024446459.1:c.1020_1022del | XP_024302227.1:p.Glu340_Val341delinsAsp | |
| XM_024446460.1:c.1104_1106del | XP_024302228.1:p.Glu368_Val369delinsAsp | |
| XR_001743468.2:n.904_906del | ||
| XR_942478.3:n.1110_1112del | ||
| XR_942480.2:n.904_906del | ||
| NM_001199917.2:c.1104_1106del | NP_001186846.1:p.Glu368_Val369delinsAsp | |
| NM_001367286.1:c.1020_1022del | NP_001354215.1:p.Glu340_Val341delinsAsp | |
| NM_001367287.1:c.1104_1106del | NP_001354216.1:p.Glu368_Val369delinsAsp | |
| NM_015599.3:c.1020_1022del MANE Select | NP_056414.1:p.Glu340_Val341delinsAsp | |
| NR_159812.1:n.1109_1111del | ||
| NM_001199918.2:c.777_779del | NP_001186847.1:p.Glu259_Val260delinsAsp | |
| NM_001199919.2:c.1020_1022del | NP_001186848.1:p.Glu340_Val341delinsAsp | |
| NR_159812.2:n.1109_1111del |