This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.[25209822C=;25209828_25209830del] , CM000674.2:g.[25209822C=;25209828_25209830del] | GRCh38 |
| NC_000012.11:g.[25362756C=;25362762_25362764del] , CM000674.1:g.[25362756C=;25362762_25362764del] | GRCh37 |
| NC_000012.10:g.[25254023C=;25254029_25254031del] | NCBI36 |
| NG_007524.1:g.[46093_46095del;46099G=] | |
| NG_007524.2:g.[46176_46178del;46182G=] |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.[195_197del;201G=] | ENSP00000452512.1:p.[Lys66del;Lys67=] | |
| ENST00000685328.1:c.[534_536del;540G=] | ENSP00000508921.1:p.[Lys179del;Lys180=] | |
| ENST00000686877.1:c.[*505_*507del;*511G=] | ENSP00000510431.1:n.[*505_*507del;*511G=] | |
| ENST00000687356.1:c.[*232_*234del;*238G=] | ENSP00000510511.1:n.[*232_*234del;*238G=] | |
| ENST00000688228.1:n.[1008_1010del;1014G=] | ||
| ENST00000688940.1:c.[534_536del;540G=] | ENSP00000509238.1:p.[Lys179del;Lys180=] | |
| ENST00000690406.1:c.[337_339del;343G=] | ||
| ENST00000690804.1:c.[*495_*497del;*501G=] | ENSP00000508568.1:n.[*495_*497del;*501G=] | |
| ENST00000692768.1:c.[336_338del;342G=] | ENSP00000510254.1:p.[Lys113del;Lys114=] | |
| ENST00000693229.1:c.[459_461del;465G=] | ENSP00000509223.1:p.[Lys154del;Lys155=] | |
| ENST00000256078.10:c.[*88_*90del;*94G=] MANE Plus Clinical | ENSP00000256078.5:n.[*88_*90del;*94G=] | |
| ENST00000311936.8:c.[534_536del;540G=] MANE Select | ENSP00000308495.3:p.[Lys179del;Lys180=] | |
| ENST00000256078.8:c.[*88_*90del;*94G=] | ENSP00000256078.4:n.[*88_*90del;*94G=] | |
| ENST00000311936.7:c.[534_536del;540G=] | ENSP00000308495.3:p.[Lys179del;Lys180=] | |
| ENST00000557334.5:c.[195_197del;201G=] | ENSP00000452512.1:p.[Lys66del;Lys67=] | |
| NM_004985.4:c.[534_536del;540G=] | NP_004976.2:p.[Lys179del;Lys180=] | |
| NM_033360.3:c.[*88_*90del;*94G=] | NP_203524.1:n.[*88_*90del;*94G=] | |
| XM_011520653.1:c.[534_536del;540G=] | XP_011518955.1:p.[Lys179del;Lys180=] | |
| XM_011520653.3:c.[534_536del;540G=] | XP_011518955.1:p.[Lys179del;Lys180=] | |
| NM_001369786.1:c.[*88_*90del;*94G=] | NP_001356715.1:n.[*88_*90del;*94G=] | |
| NM_001369787.1:c.[534_536del;540G=] | NP_001356716.1:p.[Lys179del;Lys180=] | |
| NM_004985.5:c.[534_536del;540G=] MANE Select | NP_004976.2:p.[Lys179del;Lys180=] | |
| NM_033360.4:c.[*88_*90del;*94G=] MANE Plus Clinical | NP_203524.1:n.[*88_*90del;*94G=] |