Linked Data
ClinVar Variation Id:
41186
ClinVar RCV Id:
RCV000034085
dbSNP Id:
rs267606557
PubMed:
PMID:22720333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490069del , CM000673.2:g.67490069del | GRCh38 |
| NC_000011.9:g.67257540del , CM000673.1:g.67257540del | GRCh37 |
| NC_000011.8:g.67014116del | NCBI36 |
| NG_008969.1:g.12036del , LRG_460:g.12036del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.477del | ||
| ENST00000528641.7:c.311del | ENSP00000434982.3:p.Pro104HisfsTer4 | |
| ENST00000529797.2:n.1012del | ||
| ENST00000682324.1:c.468+614del | ENSP00000508017.1:n.468+614del | |
| ENST00000682659.1:c.131del | ENSP00000507351.1:p.Pro44HisfsTer4 | |
| ENST00000682699.1:c.500del | ENSP00000507935.1:p.Pro167HisfsTer4 | |
| ENST00000683237.1:c.500del | ENSP00000507343.1:p.Pro167HisfsTer4 | |
| ENST00000683856.1:c.323del | ENSP00000507979.1:p.Pro108HisfsTer4 | |
| ENST00000684006.1:c.500del | ENSP00000507269.1:p.Pro167HisfsTer4 | |
| ENST00000684657.1:c.320del | ENSP00000507961.1:p.Pro107HisfsTer4 | |
| ENST00000279146.8:c.500del MANE Select | ENSP00000279146.3:p.Pro167HisfsTer4 | |
| ENST00000279146.7:c.500del | ENSP00000279146.3:p.Pro167HisfsTer4 | |
| ENST00000525341.1:c.152del | ENSP00000476993.1:p.Pro51HisfsTer4 | |
| ENST00000528641.6:c.311del | ENSP00000434982.2:p.Pro104HisfsTer4 | |
| NM_001302959.1:c.323del | NP_001289888.1:p.Pro108HisfsTer4 | |
| NM_001302960.1:c.500del | NP_001289889.1:p.Pro167HisfsTer4 | |
| NM_003977.3:c.500del | NP_003968.3:p.Pro167HisfsTer4 | |
| XM_024448761.1:c.500del | XP_024304529.1:p.Pro167HisfsTer4 | |
| NM_003977.4:c.500del MANE Select | NP_003968.3:p.Pro167HisfsTer4 | |
| NM_001302960.2:c.500del | NP_001289889.1:p.Pro167HisfsTer4 | |
| NM_001302959.2:c.323del | NP_001289888.1:p.Pro108HisfsTer4 |