UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
COSMIC:
COSM1570294
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807674_148807675insGGGGCC , CM000669.2:g.148807674_148807675insGGGGCC | GRCh38 |
| NC_000007.13:g.148504766_148504767insGGGGCC , CM000669.1:g.148504766_148504767insGGGGCC | GRCh37 |
| NC_000007.12:g.148135699_148135700insGGGGCC | NCBI36 |
| NG_032043.1:g.81676_81677insGCCCCG , LRG_531:g.81676_81677insGCCCCG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.4128_4129insGCCCCG | ||
| ENST00000682317.1:c.*1290_*1291insGCCCCG | ENSP00000508286.1:n.*1290_*1291insGCCCCG | |
| ENST00000683292.1:c.*1124_*1125insGCCCCG | ENSP00000507503.1:n.*1124_*1125insGCCCCG | |
| ENST00000683293.1:n.3947_3948insGCCCCG | ||
| ENST00000683744.1:c.*1290_*1291insGCCCCG | ENSP00000506949.1:n.*1290_*1291insGCCCCG | |
| ENST00000684300.1:c.*1290_*1291insGCCCCG | ENSP00000508407.1:n.*1290_*1291insGCCCCG | |
| ENST00000684400.1:n.4215_4216insGCCCCG | ||
| ENST00000684436.1:n.2544_2545insGCCCCG | ||
| ENST00000684510.1:n.2606_2607insGCCCCG | ||
| ENST00000320356.7:c.2228_2229insGCCCCG MANE Select | ENSP00000320147.2:p.Gly743_Ile744insProAr... | |
| ENST00000320356.6:c.2228_2229insGCCCCG | ENSP00000320147.2:p.Gly743_Ile744insProAr... | |
| ENST00000350995.6:c.2096_2097insGCCCCG | ENSP00000223193.2:p.Gly699_Ile700insProAr... | |
| ENST00000460911.5:c.2213_2214insGCCCCG | ENSP00000419711.1:p.Gly738_Ile739insProAr... | |
| ENST00000476773.5:c.2060_2061insGCCCCG | ENSP00000419050.1:p.Gly687_Ile688insProAr... | |
| ENST00000478654.5:c.2060_2061insGCCCCG | ENSP00000417062.1:p.Gly687_Ile688insProAr... | |
| ENST00000483967.5:c.2186_2187insGCCCCG | ENSP00000419856.1:p.Gly729_Ile730insProAr... | |
| ENST00000492143.5:c.*2218_*2219insGCCCCG | ENSP00000417377.1:n.*2218_*2219insGCCCCG | |
| NM_001203247.1:c.2213_2214insGCCCCG | NP_001190176.1:p.Gly738_Ile739insProArg | |
| NM_001203248.1:c.2186_2187insGCCCCG | NP_001190177.1:p.Gly729_Ile730insProArg | |
| NM_001203249.1:c.2060_2061insGCCCCG | NP_001190178.1:p.Gly687_Ile688insProArg | |
| NM_004456.4:c.2228_2229insGCCCCG , LRG_531t1:c.2228_2229insGCCCCG | NP_004447.2:p.Gly743_Ile744insProArg | |
| NM_152998.2:c.2096_2097insGCCCCG | NP_694543.1:p.Gly699_Ile700insProArg | |
| XM_005249962.3:c.2237_2238insGCCCCG | XP_005250019.1:p.Gly746_Ile747insProArg | |
| XM_005249963.3:c.2210_2211insGCCCCG | XP_005250020.1:p.Gly737_Ile738insProArg | |
| XM_005249964.3:c.2084_2085insGCCCCG | XP_005250021.1:p.Gly695_Ile696insProArg | |
| XM_011515883.1:c.2252_2253insGCCCCG | XP_011514185.1:p.Gly751_Ile752insProArg | |
| XM_011515884.1:c.2228_2229insGCCCCG | XP_011514186.1:p.Gly743_Ile744insProArg | |
| XM_011515885.1:c.2225_2226insGCCCCG | XP_011514187.1:p.Gly742_Ile743insProArg | |
| XM_011515886.1:c.2204_2205insGCCCCG | XP_011514188.1:p.Gly735_Ile736insProArg | |
| XM_011515887.1:c.2201_2202insGCCCCG | XP_011514189.1:p.Gly734_Ile735insProArg | |
| XM_011515888.1:c.2201_2202insGCCCCG | XP_011514190.1:p.Gly734_Ile735insProArg | |
| XM_011515889.1:c.2162_2163insGCCCCG | XP_011514191.1:p.Gly721_Ile722insProArg | |
| XM_011515890.1:c.2135_2136insGCCCCG | XP_011514192.1:p.Gly712_Ile713insProArg | |
| XM_011515891.1:c.2129_2130insGCCCCG | XP_011514193.1:p.Gly710_Ile711insProArg | |
| XM_011515892.1:c.2126_2127insGCCCCG | XP_011514194.1:p.Gly709_Ile710insProArg | |
| XM_011515893.1:c.2120_2121insGCCCCG | XP_011514195.1:p.Gly707_Ile708insProArg | |
| XM_011515894.1:c.2111_2112insGCCCCG | XP_011514196.1:p.Gly704_Ile705insProArg | |
| XM_011515895.1:c.2108_2109insGCCCCG | XP_011514197.1:p.Gly703_Ile704insProArg | |
| XM_011515896.1:c.1994_1995insGCCCCG | XP_011514198.1:p.Gly665_Ile666insProArg | |
| XM_011515897.1:c.1901_1902insGCCCCG | XP_011514199.1:p.Gly634_Ile635insProArg | |
| XM_011515898.1:c.1901_1902insGCCCCG | XP_011514200.1:p.Gly634_Ile635insProArg | |
| XR_928101.1:n.515+2589_515+2590insGGGGCC | ||
| XR_928102.1:n.722+2589_722+2590insGGGGCC | ||
| XM_005249962.4:c.2237_2238insGCCCCG | XP_005250019.1:p.Gly746_Ile747insProArg | |
| XM_005249963.4:c.2210_2211insGCCCCG | XP_005250020.1:p.Gly737_Ile738insProArg | |
| XM_005249964.4:c.2084_2085insGCCCCG | XP_005250021.1:p.Gly695_Ile696insProArg | |
| XM_011515883.2:c.2252_2253insGCCCCG | XP_011514185.1:p.Gly751_Ile752insProArg | |
| XM_011515884.2:c.2228_2229insGCCCCG | XP_011514186.1:p.Gly743_Ile744insProArg | |
| XM_011515885.2:c.2225_2226insGCCCCG | XP_011514187.1:p.Gly742_Ile743insProArg | |
| XM_011515886.2:c.2204_2205insGCCCCG | XP_011514188.1:p.Gly735_Ile736insProArg | |
| XM_011515887.3:c.2201_2202insGCCCCG | XP_011514189.1:p.Gly734_Ile735insProArg | |
| XM_011515888.2:c.2201_2202insGCCCCG | XP_011514190.1:p.Gly734_Ile735insProArg | |
| XM_011515889.2:c.2162_2163insGCCCCG | XP_011514191.1:p.Gly721_Ile722insProArg | |
| XM_011515890.2:c.2135_2136insGCCCCG | XP_011514192.1:p.Gly712_Ile713insProArg | |
| XM_011515891.3:c.2129_2130insGCCCCG | XP_011514193.1:p.Gly710_Ile711insProArg | |
| XM_011515892.2:c.2126_2127insGCCCCG | XP_011514194.1:p.Gly709_Ile710insProArg | |
| XM_011515893.2:c.2120_2121insGCCCCG | XP_011514195.1:p.Gly707_Ile708insProArg | |
| XM_011515894.2:c.2111_2112insGCCCCG | XP_011514196.1:p.Gly704_Ile705insProArg | |
| XM_011515895.2:c.2108_2109insGCCCCG | XP_011514197.1:p.Gly703_Ile704insProArg | |
| XM_011515896.2:c.1994_1995insGCCCCG | XP_011514198.1:p.Gly665_Ile666insProArg | |
| XM_011515897.2:c.1901_1902insGCCCCG | XP_011514199.1:p.Gly634_Ile635insProArg | |
| XM_011515898.2:c.1901_1902insGCCCCG | XP_011514200.1:p.Gly634_Ile635insProArg | |
| XM_017011817.2:c.2252_2253insGCCCCG | XP_016867306.1:p.Gly751_Ile752insProArg | |
| XM_017011818.1:c.2189_2190insGCCCCG | XP_016867307.1:p.Gly730_Ile731insProArg | |
| XM_017011819.1:c.2111_2112insGCCCCG | XP_016867308.1:p.Gly704_Ile705insProArg | |
| XM_017011820.2:c.2084_2085insGCCCCG | XP_016867309.1:p.Gly695_Ile696insProArg | |
| XM_017011821.1:c.1886_1887insGCCCCG | XP_016867310.1:p.Gly629_Ile630insProArg | |
| XM_024446680.1:c.2114_2115insGCCCCG | XP_024302448.1:p.Gly705_Ile706insProArg | |
| XR_001744581.1:n.4602_4603insGCCCCG | ||
| XR_002956413.1:n.5258_5259insGCCCCG | ||
| XR_002956414.1:n.5718_5719insGCCCCG | ||
| NM_001203247.2:c.2213_2214insGCCCCG | NP_001190176.1:p.Gly738_Ile739insProArg | |
| NM_001203248.2:c.2186_2187insGCCCCG | NP_001190177.1:p.Gly729_Ile730insProArg | |
| NM_001203249.2:c.2060_2061insGCCCCG | NP_001190178.1:p.Gly687_Ile688insProArg | |
| NM_004456.5:c.2228_2229insGCCCCG MANE Select | NP_004447.2:p.Gly743_Ile744insProArg | |
| NM_152998.3:c.2096_2097insGCCCCG | NP_694543.1:p.Gly699_Ile700insProArg |