Linked Data
ClinVar Variation Id:
56308
ClinVar RCV Id:
RCV000049720
dbSNP Id:
rs386833756
gnomAD v4:
4-15570483-AT-A
PubMed:
PMID:19777577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15570486del , CM000666.2:g.15570486del | GRCh38 |
| NC_000004.11:g.15572109del , CM000666.1:g.15572109del | GRCh37 |
| NC_000004.10:g.15181207del | NCBI36 |
| NG_013035.1:g.105621del , LRG_697:g.105621del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389652.11:c.3599del | ENSP00000374303.8:p.Phe1200SerfsTer11 | |
| ENST00000424120.6:c.3584del MANE Select | ENSP00000403465.1:p.Phe1195SerfsTer11 | |
| ENST00000503292.6:c.3584del | ENSP00000421809.1:p.Phe1195SerfsTer11 | |
| ENST00000506643.5:c.3437del | ENSP00000422931.2:p.Phe1146SerfsTer11 | |
| ENST00000634028.2:c.3437del | ENSP00000488669.2:p.Phe1146SerfsTer11 | |
| ENST00000650860.2:c.*590del | ENSP00000498775.1:n.*590del | |
| ENST00000674945.1:c.3437del | ENSP00000502333.1:p.Phe1146SerfsTer26 | |
| ENST00000675619.1:n.4395del | ||
| ENST00000675768.1:n.804del | ||
| ENST00000676337.1:c.*590del | ENSP00000501728.1:n.*590del | |
| ENST00000680586.1:n.4243del | ||
| ENST00000389652.9:c.3061del | ||
| ENST00000424120.5:c.3584del | ENSP00000403465.1:p.Phe1195SerfsTer11 | |
| ENST00000503292.5:c.3584del | ENSP00000421809.1:p.Phe1195SerfsTer11 | |
| ENST00000506643.4:c.1912del | ||
| ENST00000634028.1:c.3567del | ENSP00000488669.1:n.3567del | |
| NM_001080522.2:c.3584del , LRG_697t1:c.3584del | NP_001073991.2:p.Phe1195SerfsTer11 | |
| XM_005248177.1:c.3584del | XP_005248234.1:p.Phe1195SerfsTer11 | |
| XM_011513869.1:c.3584del | XP_011512171.1:p.Phe1195SerfsTer11 | |
| XM_011513870.1:c.3584del | XP_011512172.1:p.Phe1195SerfsTer11 | |
| XM_011513871.1:c.3437del | XP_011512173.1:p.Phe1146SerfsTer11 | |
| XM_017008482.1:c.3437del | XP_016863971.1:p.Phe1146SerfsTer11 | |
| XR_001741296.1:n.3829del | ||
| NM_001378615.1:c.3584del MANE Select | NP_001365544.1:p.Phe1195SerfsTer11 | |
| NM_001378617.1:c.3437del | NP_001365546.1:p.Phe1146SerfsTer11 |