Linked Data
ClinVar Variation Id:
179718
dbSNP Id:
rs727505075
gnomAD v2:
2-179485155-AGCCACAGTCTTTAAT-A
gnomAD v4:
2-178620428-AGCCACAGTCTTTAAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178620430_178620444del , CM000664.2:g.178620430_178620444del | GRCh38 |
| NC_000002.11:g.179485157_179485171del , CM000664.1:g.179485157_179485171del | GRCh37 |
| NC_000002.10:g.179193402_179193416del | NCBI36 |
| NG_011618.3:g.215360_215374del , LRG_391:g.215360_215374del | |
| NG_051363.1:g.102604_102618del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.38374_38388del | ENSP00000343764.6:p.Ile12792_Gly12796del | |
| ENST00000342175.11:c.19459_19473del | ENSP00000340554.6:p.Ile6487_Gly6491del | |
| ENST00000359218.10:c.19258_19272del | ENSP00000352154.5:p.Ile6420_Gly6424del | |
| ENST00000342175.10:c.19459_19473del | ENSP00000340554.6:p.Ile6487_Gly6491del | |
| ENST00000342992.10:c.38374_38388del | ENSP00000343764.6:p.Ile12792_Gly12796del | |
| ENST00000359218.9:c.19258_19272del | ENSP00000352154.5:p.Ile6420_Gly6424del | |
| ENST00000460472.6:c.18883_18897del | ENSP00000434586.1:p.Ile6295_Gly6299del | |
| ENST00000589042.5:c.46078_46092del MANE Select | ENSP00000467141.1:p.Ile15360_Gly15364del | |
| ENST00000591111.5:c.41155_41169del | ENSP00000465570.1:p.Ile13719_Gly13723del | |
| ENST00000615779.4:c.41155_41169del | ENSP00000483597.1:p.Ile13719_Gly13723del | |
| NM_001256850.1:c.41155_41169del | NP_001243779.1:p.Ile13719_Gly13723del | |
| NM_001267550.2:c.46078_46092del MANE Select | NP_001254479.2:p.Ile15360_Gly15364del | |
| NM_003319.4:c.18883_18897del | NP_003310.4:p.Ile6295_Gly6299del | |
| NM_133378.4:c.38374_38388del | NP_596869.4:p.Ile12792_Gly12796del | |
| NM_133432.3:c.19258_19272del | NP_597676.3:p.Ile6420_Gly6424del | |
| NM_133437.4:c.19459_19473del | NP_597681.4:p.Ile6487_Gly6491del | |
| XM_011511729.1:c.45175_45189del | XP_011510031.1:p.Ile15059_Gly15063del | |
| XM_011511730.1:c.19069_19083del | XP_011510032.1:p.Ile6357_Gly6361del | |
| XM_011511731.1:c.18928_18942del | XP_011510033.1:p.Ile6310_Gly6314del | |
| XM_017004819.1:c.44971_44985del | XP_016860308.1:p.Ile14991_Gly14995del | |
| XM_017004820.1:c.40369_40383del | XP_016860309.1:p.Ile13457_Gly13461del | |
| XM_017004821.1:c.40366_40380del | XP_016860310.1:p.Ile13456_Gly13460del | |
| XM_017004822.1:c.37408_37422del | XP_016860311.1:p.Ile12470_Gly12474del | |
| XM_017004823.1:c.19024_19038del | XP_016860312.1:p.Ile6342_Gly6346del | |
| XM_024453094.1:c.40519_40533del | XP_024308862.1:p.Ile13507_Gly13511del | |
| XM_024453095.1:c.40516_40530del | XP_024308863.1:p.Ile13506_Gly13510del | |
| XM_024453096.1:c.39949_39963del | XP_024308864.1:p.Ile13317_Gly13321del | |
| XM_024453097.1:c.37291_37305del | XP_024308865.1:p.Ile12431_Gly12435del | |
| XM_024453098.1:c.37210_37224del | XP_024308866.1:p.Ile12404_Gly12408del | |
| XM_024453099.1:c.18973_18987del | XP_024308867.1:p.Ile6325_Gly6329del | |
| XM_024453100.1:c.8827_8841del | XP_024308868.1:p.Ile2943_Gly2947del |