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:
COSM6023056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807675_148807676insCCCGCC , CM000669.2:g.148807675_148807676insCCCGCC | GRCh38 |
| NC_000007.13:g.148504767_148504768insCCCGCC , CM000669.1:g.148504767_148504768insCCCGCC | GRCh37 |
| NC_000007.12:g.148135700_148135701insCCCGCC | NCBI36 |
| NG_032043.1:g.81677_81678insGGGGGC , LRG_531:g.81677_81678insGGGGGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.4129_4130insGGGGGC | ||
| ENST00000682317.1:c.*1291_*1292insGGGGGC | ENSP00000508286.1:n.*1291_*1292insGGGGGC | |
| ENST00000683292.1:c.*1125_*1126insGGGGGC | ENSP00000507503.1:n.*1125_*1126insGGGGGC | |
| ENST00000683293.1:n.3948_3949insGGGGGC | ||
| ENST00000683744.1:c.*1291_*1292insGGGGGC | ENSP00000506949.1:n.*1291_*1292insGGGGGC | |
| ENST00000684300.1:c.*1291_*1292insGGGGGC | ENSP00000508407.1:n.*1291_*1292insGGGGGC | |
| ENST00000684400.1:n.4216_4217insGGGGGC | ||
| ENST00000684436.1:n.2545_2546insGGGGGC | ||
| ENST00000684510.1:n.2607_2608insGGGGGC | ||
| ENST00000320356.7:c.2229_2230insGGGGGC MANE Select | ENSP00000320147.2:p.Gly743_Ile744insGlyGl... | |
| ENST00000320356.6:c.2229_2230insGGGGGC | ENSP00000320147.2:p.Gly743_Ile744insGlyGl... | |
| ENST00000350995.6:c.2097_2098insGGGGGC | ENSP00000223193.2:p.Gly699_Ile700insGlyGl... | |
| ENST00000460911.5:c.2214_2215insGGGGGC | ENSP00000419711.1:p.Gly738_Ile739insGlyGl... | |
| ENST00000476773.5:c.2061_2062insGGGGGC | ENSP00000419050.1:p.Gly687_Ile688insGlyGl... | |
| ENST00000478654.5:c.2061_2062insGGGGGC | ENSP00000417062.1:p.Gly687_Ile688insGlyGl... | |
| ENST00000483967.5:c.2187_2188insGGGGGC | ENSP00000419856.1:p.Gly729_Ile730insGlyGl... | |
| ENST00000492143.5:c.*2219_*2220insGGGGGC | ENSP00000417377.1:n.*2219_*2220insGGGGGC | |
| NM_001203247.1:c.2214_2215insGGGGGC | NP_001190176.1:p.Gly738_Ile739insGlyGly | |
| NM_001203248.1:c.2187_2188insGGGGGC | NP_001190177.1:p.Gly729_Ile730insGlyGly | |
| NM_001203249.1:c.2061_2062insGGGGGC | NP_001190178.1:p.Gly687_Ile688insGlyGly | |
| NM_004456.4:c.2229_2230insGGGGGC , LRG_531t1:c.2229_2230insGGGGGC | NP_004447.2:p.Gly743_Ile744insGlyGly | |
| NM_152998.2:c.2097_2098insGGGGGC | NP_694543.1:p.Gly699_Ile700insGlyGly | |
| XM_005249962.3:c.2238_2239insGGGGGC | XP_005250019.1:p.Gly746_Ile747insGlyGly | |
| XM_005249963.3:c.2211_2212insGGGGGC | XP_005250020.1:p.Gly737_Ile738insGlyGly | |
| XM_005249964.3:c.2085_2086insGGGGGC | XP_005250021.1:p.Gly695_Ile696insGlyGly | |
| XM_011515883.1:c.2253_2254insGGGGGC | XP_011514185.1:p.Gly751_Ile752insGlyGly | |
| XM_011515884.1:c.2229_2230insGGGGGC | XP_011514186.1:p.Gly743_Ile744insGlyGly | |
| XM_011515885.1:c.2226_2227insGGGGGC | XP_011514187.1:p.Gly742_Ile743insGlyGly | |
| XM_011515886.1:c.2205_2206insGGGGGC | XP_011514188.1:p.Gly735_Ile736insGlyGly | |
| XM_011515887.1:c.2202_2203insGGGGGC | XP_011514189.1:p.Gly734_Ile735insGlyGly | |
| XM_011515888.1:c.2202_2203insGGGGGC | XP_011514190.1:p.Gly734_Ile735insGlyGly | |
| XM_011515889.1:c.2163_2164insGGGGGC | XP_011514191.1:p.Gly721_Ile722insGlyGly | |
| XM_011515890.1:c.2136_2137insGGGGGC | XP_011514192.1:p.Gly712_Ile713insGlyGly | |
| XM_011515891.1:c.2130_2131insGGGGGC | XP_011514193.1:p.Gly710_Ile711insGlyGly | |
| XM_011515892.1:c.2127_2128insGGGGGC | XP_011514194.1:p.Gly709_Ile710insGlyGly | |
| XM_011515893.1:c.2121_2122insGGGGGC | XP_011514195.1:p.Gly707_Ile708insGlyGly | |
| XM_011515894.1:c.2112_2113insGGGGGC | XP_011514196.1:p.Gly704_Ile705insGlyGly | |
| XM_011515895.1:c.2109_2110insGGGGGC | XP_011514197.1:p.Gly703_Ile704insGlyGly | |
| XM_011515896.1:c.1995_1996insGGGGGC | XP_011514198.1:p.Gly665_Ile666insGlyGly | |
| XM_011515897.1:c.1902_1903insGGGGGC | XP_011514199.1:p.Gly634_Ile635insGlyGly | |
| XM_011515898.1:c.1902_1903insGGGGGC | XP_011514200.1:p.Gly634_Ile635insGlyGly | |
| XR_928101.1:n.515+2590_515+2591insCCCGCC | ||
| XR_928102.1:n.722+2590_722+2591insCCCGCC | ||
| XM_005249962.4:c.2238_2239insGGGGGC | XP_005250019.1:p.Gly746_Ile747insGlyGly | |
| XM_005249963.4:c.2211_2212insGGGGGC | XP_005250020.1:p.Gly737_Ile738insGlyGly | |
| XM_005249964.4:c.2085_2086insGGGGGC | XP_005250021.1:p.Gly695_Ile696insGlyGly | |
| XM_011515883.2:c.2253_2254insGGGGGC | XP_011514185.1:p.Gly751_Ile752insGlyGly | |
| XM_011515884.2:c.2229_2230insGGGGGC | XP_011514186.1:p.Gly743_Ile744insGlyGly | |
| XM_011515885.2:c.2226_2227insGGGGGC | XP_011514187.1:p.Gly742_Ile743insGlyGly | |
| XM_011515886.2:c.2205_2206insGGGGGC | XP_011514188.1:p.Gly735_Ile736insGlyGly | |
| XM_011515887.3:c.2202_2203insGGGGGC | XP_011514189.1:p.Gly734_Ile735insGlyGly | |
| XM_011515888.2:c.2202_2203insGGGGGC | XP_011514190.1:p.Gly734_Ile735insGlyGly | |
| XM_011515889.2:c.2163_2164insGGGGGC | XP_011514191.1:p.Gly721_Ile722insGlyGly | |
| XM_011515890.2:c.2136_2137insGGGGGC | XP_011514192.1:p.Gly712_Ile713insGlyGly | |
| XM_011515891.3:c.2130_2131insGGGGGC | XP_011514193.1:p.Gly710_Ile711insGlyGly | |
| XM_011515892.2:c.2127_2128insGGGGGC | XP_011514194.1:p.Gly709_Ile710insGlyGly | |
| XM_011515893.2:c.2121_2122insGGGGGC | XP_011514195.1:p.Gly707_Ile708insGlyGly | |
| XM_011515894.2:c.2112_2113insGGGGGC | XP_011514196.1:p.Gly704_Ile705insGlyGly | |
| XM_011515895.2:c.2109_2110insGGGGGC | XP_011514197.1:p.Gly703_Ile704insGlyGly | |
| XM_011515896.2:c.1995_1996insGGGGGC | XP_011514198.1:p.Gly665_Ile666insGlyGly | |
| XM_011515897.2:c.1902_1903insGGGGGC | XP_011514199.1:p.Gly634_Ile635insGlyGly | |
| XM_011515898.2:c.1902_1903insGGGGGC | XP_011514200.1:p.Gly634_Ile635insGlyGly | |
| XM_017011817.2:c.2253_2254insGGGGGC | XP_016867306.1:p.Gly751_Ile752insGlyGly | |
| XM_017011818.1:c.2190_2191insGGGGGC | XP_016867307.1:p.Gly730_Ile731insGlyGly | |
| XM_017011819.1:c.2112_2113insGGGGGC | XP_016867308.1:p.Gly704_Ile705insGlyGly | |
| XM_017011820.2:c.2085_2086insGGGGGC | XP_016867309.1:p.Gly695_Ile696insGlyGly | |
| XM_017011821.1:c.1887_1888insGGGGGC | XP_016867310.1:p.Gly629_Ile630insGlyGly | |
| XM_024446680.1:c.2115_2116insGGGGGC | XP_024302448.1:p.Gly705_Ile706insGlyGly | |
| XR_001744581.1:n.4603_4604insGGGGGC | ||
| XR_002956413.1:n.5259_5260insGGGGGC | ||
| XR_002956414.1:n.5719_5720insGGGGGC | ||
| NM_001203247.2:c.2214_2215insGGGGGC | NP_001190176.1:p.Gly738_Ile739insGlyGly | |
| NM_001203248.2:c.2187_2188insGGGGGC | NP_001190177.1:p.Gly729_Ile730insGlyGly | |
| NM_001203249.2:c.2061_2062insGGGGGC | NP_001190178.1:p.Gly687_Ile688insGlyGly | |
| NM_004456.5:c.2229_2230insGGGGGC MANE Select | NP_004447.2:p.Gly743_Ile744insGlyGly | |
| NM_152998.3:c.2097_2098insGGGGGC | NP_694543.1:p.Gly699_Ile700insGlyGly |