Linked Data
ClinVar Variation Id:
180857
ClinVar RCV Id:
RCV000157931
dbSNP Id:
rs730880469
COSMIC:
COSM27327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25227338_25227340del , CM000674.2:g.25227338_25227340del | GRCh38 |
| NC_000012.11:g.25380272_25380274del , CM000674.1:g.25380272_25380274del | GRCh37 |
| NC_000012.10:g.25271539_25271541del | NCBI36 |
| NG_007524.1:g.28584_28586del | |
| NG_007524.2:g.28667_28669del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557334.6:c.112-17426_112-17424del | ENSP00000452512.1:n.112-17426_112-17424de... | |
| ENST00000685328.1:c.187_189del | ENSP00000508921.1:p.Glu63del | |
| ENST00000686877.1:c.*158_*160del | ENSP00000510431.1:n.*158_*160del | |
| ENST00000687356.1:c.112-1564_112-1562del | ENSP00000510511.1:n.112-1564_112-1562del | |
| ENST00000688228.1:n.661_663del | ||
| ENST00000688940.1:c.187_189del | ENSP00000509238.1:p.Glu63del | |
| ENST00000690804.1:c.*148_*150del | ENSP00000508568.1:n.*148_*150del | |
| ENST00000692768.1:c.-12_-10del | ENSP00000510254.1:n.-12_-10del | |
| ENST00000693229.1:c.112_114del | ||
| ENST00000256078.10:c.187_189del MANE Plus Clinical | ENSP00000256078.5:p.Glu63del | |
| ENST00000311936.8:c.187_189del MANE Select | ENSP00000308495.3:p.Glu63del | |
| ENST00000256078.8:c.187_189del | ENSP00000256078.4:p.Glu63del | |
| ENST00000311936.7:c.187_189del | ENSP00000308495.3:p.Glu63del | |
| ENST00000557334.5:c.112-17426_112-17424del | ENSP00000452512.1:n.112-17426_112-17424de... | |
| NM_004985.4:c.187_189del | NP_004976.2:p.Glu63del | |
| NM_033360.3:c.187_189del | NP_203524.1:p.Glu63del | |
| XM_006719069.2:c.187_189del | XP_006719132.1:p.Glu63del | |
| XM_011520653.1:c.187_189del | XP_011518955.1:p.Glu63del | |
| XM_006719069.4:c.187_189del | XP_006719132.1:p.Glu63del | |
| XM_011520653.3:c.187_189del | XP_011518955.1:p.Glu63del | |
| NM_001369786.1:c.187_189del | NP_001356715.1:p.Glu63del | |
| NM_001369787.1:c.187_189del | NP_001356716.1:p.Glu63del | |
| NM_004985.5:c.187_189del MANE Select | NP_004976.2:p.Glu63del | |
| NM_033360.4:c.187_189del MANE Plus Clinical | NP_203524.1:p.Glu63del |