Linked Data
ClinVar Variation Id:
187542
dbSNP Id:
rs786203811
gnomAD v2:
2-215593584-ATG-A
gnomAD v4:
2-214728860-ATG-A
PubMed:
PMID:22006311
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728861_214728862del , CM000664.2:g.214728861_214728862del | GRCh38 |
| NC_000002.11:g.215593585_215593586del , CM000664.1:g.215593585_215593586del | GRCh37 |
| NC_000002.10:g.215301830_215301831del | NCBI36 |
| NG_012047.2:g.85843_85844del | |
| NG_012047.3:g.85850_85851del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.2148_2149del MANE Select | ENSP00000260947.4:p.Ile717GlnfsTer12 | |
| ENST00000421162.2:c.795_796del | ENSP00000392245.2:p.Ile266GlnfsTer12 | |
| ENST00000613192.2:c.*211_*212del | ENSP00000483275.2:n.*211_*212del | |
| ENST00000613374.5:c.738_739del | ENSP00000484464.1:p.Ile247GlnfsTer12 | |
| ENST00000613706.5:c.1740_1741del | ENSP00000484976.2:p.Ile581GlnfsTer12 | |
| ENST00000617164.5:c.2091_2092del | ENSP00000480470.1:p.Ile698GlnfsTer12 | |
| ENST00000619009.5:c.609_610del | ENSP00000482293.1:p.Ile204GlnfsTer12 | |
| ENST00000650978.1:c.3523_3524del | ||
| ENST00000260947.8:c.2148_2149del | ENSP00000260947.4:p.Ile717GlnfsTer12 | |
| ENST00000432456.5:c.291_292del | ||
| ENST00000455743.5:c.*1768_*1769del | ENSP00000412186.1:n.*1768_*1769del | |
| ENST00000471590.5:n.483_484del | ||
| ENST00000613192.1:c.318_319del | ENSP00000483275.1:p.Ile107GlnfsTer12 | |
| ENST00000613374.4:c.738_739del | ENSP00000484464.1:p.Ile247GlnfsTer12 | |
| ENST00000613706.4:c.795_796del | ENSP00000484976.1:p.Ile266GlnfsTer12 | |
| ENST00000617164.4:c.2091_2092del | ENSP00000480470.1:p.Ile698GlnfsTer12 | |
| ENST00000619009.4:c.609_610del | ENSP00000482293.1:p.Ile204GlnfsTer12 | |
| ENST00000620057.4:c.*814_*815del | ENSP00000481988.1:n.*814_*815del | |
| NM_000465.3:c.2148_2149del | NP_000456.2:p.Ile717GlnfsTer12 | |
| NM_001282543.1:c.2091_2092del | NP_001269472.1:p.Ile698GlnfsTer12 | |
| NM_001282545.1:c.795_796del | NP_001269474.1:p.Ile266GlnfsTer12 | |
| NM_001282548.1:c.738_739del | NP_001269477.1:p.Ile247GlnfsTer12 | |
| NM_001282549.1:c.609_610del | NP_001269478.1:p.Ile204GlnfsTer12 | |
| NR_104212.1:n.2141_2142del | ||
| NR_104215.1:n.2084_2085del | ||
| NR_104216.1:n.1340_1341del | ||
| XM_011511567.1:c.2094_2095del | XP_011509869.1:p.Ile699GlnfsTer12 | |
| XM_017004613.1:c.2247_2248del | XP_016860102.1:p.Ile750GlnfsTer12 | |
| XR_002959322.1:n.2514_2515del | ||
| NM_000465.4:c.2148_2149del MANE Select | NP_000456.2:p.Ile717GlnfsTer12 | |
| NM_001282543.2:c.2091_2092del | NP_001269472.1:p.Ile698GlnfsTer12 | |
| NM_001282545.2:c.795_796del | NP_001269474.1:p.Ile266GlnfsTer12 | |
| NM_001282548.2:c.738_739del | NP_001269477.1:p.Ile247GlnfsTer12 | |
| NM_001282549.2:c.609_610del | NP_001269478.1:p.Ile204GlnfsTer12 | |
| NR_104212.2:n.2113_2114del | ||
| NR_104215.2:n.2056_2057del | ||
| NR_104216.2:n.1312_1313del |