Linked Data
ClinVar Variation Id:
56722
dbSNP Id:
rs386834141
gnomAD v2:
6-41129078-GC-G
gnomAD v4:
6-41161340-GC-G
PubMed:
PMID:15883308
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41161341del , CM000668.2:g.41161341del | GRCh38 |
| NC_000006.11:g.41129079del , CM000668.1:g.41129079del | GRCh37 |
| NC_000006.10:g.41237057del | NCBI36 |
| NG_011561.1:g.6844del , LRG_631:g.6844del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373113.8:c.313del MANE Select | ENSP00000362205.3:p.Ala105ArgfsTer? | |
| ENST00000338469.3:c.313del | ENSP00000342651.4:p.Ala105ArgfsTer? | |
| ENST00000373113.7:c.313del | ENSP00000362205.3:p.Ala105ArgfsTer? | |
| ENST00000373122.8:c.313del | ENSP00000362214.4:p.Ala105ArgfsTer? | |
| NM_001271821.1:c.313del | NP_001258750.1:p.Ala105ArgfsTer? | |
| NM_018965.3:c.313del , LRG_631t1:c.313del | NP_061838.1:p.Ala105ArgfsTer? | |
| XM_006715116.2:c.131-1459del | XP_006715179.1:n.131-1459del | |
| XR_926795.1:n.222+5778del | ||
| XR_926796.1:n.214+5778del | ||
| XR_926797.1:n.188+5778del | ||
| XR_926795.2:n.517+5778del | ||
| XR_926797.2:n.232+5778del | ||
| NM_001271821.2:c.313del | NP_001258750.1:p.Ala105ArgfsTer? | |
| NM_018965.4:c.313del MANE Select | NP_061838.1:p.Ala105ArgfsTer? |