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:
COSM1172821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177234238_177234240del , CM000664.2:g.177234238_177234240del | GRCh38 |
| NC_000002.11:g.178098966_178098968del , CM000664.1:g.178098966_178098968del | GRCh37 |
| NC_000002.10:g.177807212_177807214del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397063.9:c.30_32del | ENSP00000380253.4:p.Gln10_Asp11delinsHis | |
| ENST00000421929.6:c.30_32del | ENSP00000412191.2:p.Gln10_Asp11delinsHis | |
| ENST00000423513.6:n.168_170del | ||
| ENST00000448782.6:c.30_32del | ENSP00000400073.2:p.Gln10_Asp11delinsHis | |
| ENST00000458603.2:c.30_32del | ENSP00000416308.2:p.Gln10_Asp11delinsHis | |
| ENST00000462023.2:n.233_235del | ||
| ENST00000477534.2:n.168_170del | ||
| ENST00000586532.6:c.75_77del | ENSP00000464920.2:p.Gln25_Asp26delinsHis | |
| ENST00000588123.2:c.30_32del | ENSP00000468089.2:p.Gln10_Asp11delinsHis | |
| ENST00000699220.1:c.78_80del | ENSP00000514214.1:p.Gln26_Asp27delinsHis | |
| ENST00000699223.1:c.78_80del | ENSP00000514217.1:p.Gln26_Asp27delinsHis | |
| ENST00000699224.1:c.78_80del | ENSP00000514218.1:p.Gln26_Asp27delinsHis | |
| ENST00000699264.1:c.78_80del | ENSP00000514245.1:p.Gln26_Asp27delinsHis | |
| ENST00000699265.1:c.75_77del | ENSP00000514246.1:p.Gln25_Asp26delinsHis | |
| ENST00000699296.1:c.78_80del | ENSP00000514276.1:p.Gln26_Asp27delinsHis | |
| ENST00000699297.1:c.30_32del | ENSP00000514277.1:p.Gln10_Asp11delinsHis | |
| ENST00000699298.1:c.30_32del | ENSP00000514278.1:p.Gln10_Asp11delinsHis | |
| ENST00000699299.1:c.30_32del | ENSP00000514279.1:p.Gln10_Asp11delinsHis | |
| ENST00000699300.1:c.78_80del | ENSP00000514280.1:p.Gln26_Asp27delinsHis | |
| ENST00000699301.1:c.75_77del | ENSP00000514281.1:p.Gln25_Asp26delinsHis | |
| ENST00000699302.1:c.30_32del | ENSP00000514282.1:p.Gln10_Asp11delinsHis | |
| ENST00000699303.1:c.75_77del | ENSP00000514283.1:p.Gln25_Asp26delinsHis | |
| ENST00000699304.1:c.75_77del | ENSP00000514284.1:p.Gln25_Asp26delinsHis | |
| ENST00000699305.1:c.75_77del | ENSP00000514285.1:p.Gln25_Asp26delinsHis | |
| ENST00000699306.1:n.182_184del | ||
| ENST00000699307.1:c.78_80del | ENSP00000514286.1:p.Gln26_Asp27delinsHis | |
| ENST00000699308.1:c.75_77del | ENSP00000514287.1:p.Gln25_Asp26delinsHis | |
| ENST00000699309.1:c.75_77del | ENSP00000514288.1:p.Gln25_Asp26delinsHis | |
| ENST00000699327.1:c.33_35del | ENSP00000514302.1:p.Gln11_Asp12delinsHis | |
| ENST00000699328.1:c.30_32del | ENSP00000514303.1:p.Gln10_Asp11delinsHis | |
| ENST00000699329.1:n.2221_2223del | ||
| ENST00000699330.1:c.30_32del | ENSP00000514304.1:p.Gln10_Asp11delinsHis | |
| ENST00000699331.1:c.75_77del | ENSP00000514305.1:p.Gln25_Asp26delinsHis | |
| ENST00000699332.1:n.150_152del | ||
| ENST00000699342.1:c.78_80del | ENSP00000514317.1:p.Gln26_Asp27delinsHis | |
| ENST00000699343.1:c.30_32del | ENSP00000514318.1:p.Gln10_Asp11delinsHis | |
| ENST00000699344.1:c.39_41del | ENSP00000514319.1:p.Gln13_Asp14delinsHis | |
| ENST00000699345.1:c.75_77del | ENSP00000514320.1:p.Gln25_Asp26delinsHis | |
| ENST00000699346.1:c.216_218del | ENSP00000514321.1:p.Gln72_Asp73delinsHis | |
| ENST00000699347.1:c.30_32del | ENSP00000514322.1:p.Gln10_Asp11delinsHis | |
| ENST00000699348.1:c.75_77del | ENSP00000514323.1:p.Gln25_Asp26delinsHis | |
| ENST00000699349.1:n.218_220del | ||
| ENST00000699350.1:c.75_77del | ENSP00000514324.1:p.Gln25_Asp26delinsHis | |
| ENST00000699351.1:c.30_32del | ENSP00000514325.1:p.Gln10_Asp11delinsHis | |
| ENST00000699352.1:c.75_77del | ENSP00000514326.1:p.Gln25_Asp26delinsHis | |
| ENST00000699353.1:c.216_218del | ENSP00000514327.1:p.Gln72_Asp73delinsHis | |
| ENST00000699404.1:c.75_77del | ENSP00000514365.1:p.Gln25_Asp26delinsHis | |
| ENST00000699405.1:c.78_80del | ENSP00000514366.1:p.Gln26_Asp27delinsHis | |
| ENST00000699406.1:c.75_77del | ENSP00000514367.1:p.Gln25_Asp26delinsHis | |
| ENST00000699407.1:c.30_32del | ENSP00000514368.1:p.Gln10_Asp11delinsHis | |
| ENST00000699408.1:c.30_32del | ENSP00000514369.1:p.Gln10_Asp11delinsHis | |
| ENST00000699409.1:c.30_32del | ENSP00000514370.1:p.Gln10_Asp11delinsHis | |
| ENST00000699410.1:c.75_77del | ENSP00000514371.1:p.Gln25_Asp26delinsHis | |
| ENST00000699411.1:c.39_41del | ENSP00000514372.1:p.Gln13_Asp14delinsHis | |
| ENST00000699412.1:c.39_41del | ENSP00000514373.1:p.Gln13_Asp14delinsHis | |
| ENST00000699413.1:n.1085_1087del | ||
| ENST00000699414.1:n.934_936del | ||
| ENST00000699431.1:c.30_32del | ENSP00000514384.1:p.Gln10_Asp11delinsHis | |
| ENST00000699432.1:c.33_35del | ENSP00000514385.1:p.Gln11_Asp12delinsHis | |
| ENST00000699433.1:n.161_163del | ||
| ENST00000699434.1:c.30_32del | ENSP00000514386.1:p.Gln10_Asp11delinsHis | |
| ENST00000699435.1:c.75_77del | ENSP00000514387.1:p.Gln25_Asp26delinsHis | |
| ENST00000397062.8:c.78_80del MANE Select | ENSP00000380252.3:p.Gln26_Asp27delinsHis | |
| ENST00000397062.7:c.78_80del | ENSP00000380252.3:p.Gln26_Asp27delinsHis | |
| ENST00000397063.8:c.30_32del | ENSP00000380253.4:p.Gln10_Asp11delinsHis | |
| ENST00000421929.5:c.30_32del | ENSP00000412191.1:p.Gln10_Asp11delinsHis | |
| ENST00000423513.5:c.30_32del | ENSP00000410015.1:p.Gln10_Asp11delinsHis | |
| ENST00000430047.1:c.63+15_63+17del | ENSP00000391291.1:n.63+15_63+17del | |
| ENST00000446151.6:c.30_32del | ENSP00000411575.2:p.Gln10_Asp11delinsHis | |
| ENST00000448782.5:c.30_32del | ENSP00000400073.1:p.Gln10_Asp11delinsHis | |
| ENST00000449627.1:c.30_32del | ENSP00000391590.1:p.Gln10_Asp11delinsHis | |
| ENST00000462023.1:n.161_163del | ||
| ENST00000464747.5:c.30_32del | ENSP00000467401.1:p.Gln10_Asp11delinsHis | |
| ENST00000477534.1:n.168_170del | ||
| ENST00000586532.5:c.75_77del | ENSP00000464920.1:p.Gln25_Asp26delinsHis | |
| ENST00000588123.1:c.30_32del | ENSP00000468089.1:p.Gln10_Asp11delinsHis | |
| NM_001145412.2:c.30_32del | NP_001138884.1:p.Gln10_Asp11delinsHis | |
| NM_001145412.3:c.30_32del | NP_001138884.1:p.Gln10_Asp11delinsHis | |
| NM_001145413.2:c.30_32del | NP_001138885.1:p.Gln10_Asp11delinsHis | |
| NM_001145413.3:c.30_32del | NP_001138885.1:p.Gln10_Asp11delinsHis | |
| NM_001313900.1:c.30_32del | NP_001300829.1:p.Gln10_Asp11delinsHis | |
| NM_001313901.1:c.30_32del | NP_001300830.1:p.Gln10_Asp11delinsHis | |
| NM_001313902.1:c.78_80del | NP_001300831.1:p.Gln26_Asp27delinsHis | |
| NM_001313903.1:c.78_80del | NP_001300832.1:p.Gln26_Asp27delinsHis | |
| NM_001313904.1:c.-152_-150del | NP_001300833.1:n.-152_-150del | |
| NM_006164.4:c.78_80del | NP_006155.2:p.Gln26_Asp27delinsHis | |
| NM_006164.5:c.78_80del MANE Select | NP_006155.2:p.Gln26_Asp27delinsHis | |
| NM_001313902.2:c.78_80del | NP_001300831.1:p.Gln26_Asp27delinsHis | |
| NM_001313903.2:c.78_80del | NP_001300832.1:p.Gln26_Asp27delinsHis |