Linked Data
ClinVar Variation Id:
200693
dbSNP Id:
rs748706373
ExAC:
7:150644698 CAG / C
gnomAD v2:
7-150644698-CAG-C
gnomAD v4:
7-150947610-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947611_150947612del , CM000669.2:g.150947611_150947612del | GRCh38 |
| NC_000007.13:g.150644699_150644700del , CM000669.1:g.150644699_150644700del | GRCh37 |
| NC_000007.12:g.150275632_150275633del | NCBI36 |
| NG_008916.1:g.35315_35316del , LRG_288:g.35315_35316del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.3792_3793del | ||
| ENST00000262186.10:c.2959_2960del MANE Select | ENSP00000262186.5:p.Leu987ValfsTer? | |
| ENST00000330883.9:c.1939_1940del | ENSP00000328531.4:p.Leu647ValfsTer? | |
| ENST00000262186.9:c.2959_2960del | ENSP00000262186.5:p.Leu987ValfsTer? | |
| ENST00000330883.8:c.1939_1940del | ENSP00000328531.4:p.Leu647ValfsTer? | |
| NM_000238.3:c.2959_2960del , LRG_288t1:c.2959_2960del | NP_000229.1:p.Leu987ValfsTer? | |
| NM_172057.2:c.1939_1940del , LRG_288t3:c.1939_1940del | NP_742054.1:p.Leu647ValfsTer? | |
| XM_011516185.1:c.2659_2660del | XP_011514487.1:p.Leu887ValfsTer? | |
| XM_011516186.1:c.*39_*40del | XP_011514488.1:n.*39_*40del | |
| XM_011516185.2:c.2659_2660del | XP_011514487.1:p.Leu887ValfsTer? | |
| XM_011516186.3:c.*39_*40del | XP_011514488.1:n.*39_*40del | |
| XM_017012195.1:c.2809_2810del | XP_016867684.1:p.Leu937ValfsTer? | |
| XM_017012196.1:c.2782_2783del | XP_016867685.1:p.Leu928ValfsTer? | |
| NM_000238.4:c.2959_2960del MANE Select | NP_000229.1:p.Leu987ValfsTer? | |
| NM_172057.3:c.1939_1940del | NP_742054.1:p.Leu647ValfsTer? |