Linked Data
ClinVar Variation Id:
523705
ClinVar RCV Id:
RCV000627151
dbSNP Id:
rs1554424138
gnomAD v4:
7-150947425-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947430del , CM000669.2:g.150947430del | GRCh38 |
| NC_000007.13:g.150644518del , CM000669.1:g.150644518del | GRCh37 |
| NC_000007.12:g.150275451del | NCBI36 |
| NG_008916.1:g.35501del , LRG_288:g.35501del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.3887del | ||
| ENST00000262186.10:c.3054del MANE Select | ENSP00000262186.5:p.Thr1019ProfsTer? | |
| ENST00000330883.9:c.2034del | ENSP00000328531.4:p.Thr679ProfsTer? | |
| ENST00000262186.9:c.3054del | ENSP00000262186.5:p.Thr1019ProfsTer? | |
| ENST00000330883.8:c.2034del | ENSP00000328531.4:p.Thr679ProfsTer? | |
| NM_000238.3:c.3054del , LRG_288t1:c.3054del | NP_000229.1:p.Thr1019ProfsTer? | |
| NM_172057.2:c.2034del , LRG_288t3:c.2034del | NP_742054.1:p.Thr679ProfsTer? | |
| XM_011516185.1:c.2754del | XP_011514487.1:p.Thr919ProfsTer? | |
| XM_011516186.1:c.*134del | XP_011514488.1:n.*134del | |
| XM_011516185.2:c.2754del | XP_011514487.1:p.Thr919ProfsTer? | |
| XM_011516186.3:c.*134del | XP_011514488.1:n.*134del | |
| XM_017012195.1:c.2904del | XP_016867684.1:p.Thr969ProfsTer? | |
| XM_017012196.1:c.2877del | XP_016867685.1:p.Thr960ProfsTer? | |
| NM_000238.4:c.3054del MANE Select | NP_000229.1:p.Thr1019ProfsTer? | |
| NM_172057.3:c.2034del | NP_742054.1:p.Thr679ProfsTer? |