Linked Data
ClinVar Variation Id:
1188616
ClinVar RCV Id:
RCV001548458
dbSNP Id:
rs747506478
ExAC:
12:53701262 CTTAT / C
gnomAD v2:
12-53701262-CTTAT-C
gnomAD v3:
12-53307478-CTTAT-C
gnomAD v4:
12-53307478-CTTAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307484_53307487del , CM000674.2:g.53307484_53307487del | GRCh38 |
| NC_000012.11:g.53701268_53701271del , CM000674.1:g.53701268_53701271del | GRCh37 |
| NC_000012.10:g.51987535_51987538del | NCBI36 |
| NG_016775.1:g.19147_19150del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.*7_*10del MANE Select | ENSP00000209873.4:n.*7_*10del | |
| ENST00000547757.2:c.*566_*569del | ENSP00000448020.2:n.*566_*569del | |
| ENST00000548931.6:c.1083_1086del | ENSP00000457518.1:n.1083_1086del | |
| ENST00000549450.6:n.1582_1585del | ||
| ENST00000209873.8:c.*7_*10del | ENSP00000209873.4:n.*7_*10del | |
| ENST00000394384.7:c.*7_*10del | ENSP00000377908.3:n.*7_*10del | |
| ENST00000550286.5:c.*7_*10del | ENSP00000446885.1:n.*7_*10del | |
| ENST00000552876.5:n.1991_1994del | ||
| NM_001173466.1:c.*7_*10del | NP_001166937.1:n.*7_*10del | |
| NM_015665.5:c.*7_*10del | NP_056480.1:n.*7_*10del | |
| XM_006719617.2:c.*7_*10del | XP_006719680.1:n.*7_*10del | |
| XM_011538777.1:c.*7_*10del | XP_011537079.1:n.*7_*10del | |
| XM_011538778.1:c.*7_*10del | XP_011537080.1:n.*7_*10del | |
| XM_011538779.1:c.*7_*10del | XP_011537081.1:n.*7_*10del | |
| XM_011538780.1:c.*7_*10del | XP_011537082.1:n.*7_*10del | |
| XM_011538781.1:c.*7_*10del | XP_011537083.1:n.*7_*10del | |
| XM_011538778.2:c.*7_*10del | XP_011537080.1:n.*7_*10del | |
| XM_011538780.2:c.*7_*10del | XP_011537082.1:n.*7_*10del | |
| NM_015665.6:c.*7_*10del MANE Select | NP_056480.1:n.*7_*10del | |
| NM_001173466.2:c.*7_*10del | NP_001166937.1:n.*7_*10del |