Linked Data
ClinVar Variation Id:
37553
dbSNP Id:
rs80357842
gnomAD v2:
17-41243686-CCTCA-C
gnomAD v4:
17-43091669-CCTCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091672_43091675del , CM000679.2:g.43091672_43091675del | GRCh38 |
| NC_000017.10:g.41243689_41243692del , CM000679.1:g.41243689_41243692del | GRCh37 |
| NC_000017.9:g.38497215_38497218del | NCBI36 |
| NG_005905.2:g.126311_126314del , LRG_292:g.126311_126314del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.3922_3925del | ||
| ENST00000461574.2:c.3858_3861del | ENSP00000417241.2:p.Ser1286ArgfsTer20 | |
| ENST00000470026.6:c.3858_3861del | ENSP00000419274.2:p.Ser1286ArgfsTer20 | |
| ENST00000473961.6:c.3732_3735del | ENSP00000420201.2:p.Ser1244ArgfsTer20 | |
| ENST00000476777.6:c.3855_3858del | ENSP00000417554.2:p.Ser1285ArgfsTer20 | |
| ENST00000477152.6:c.3780_3783del | ENSP00000419988.2:p.Ser1260ArgfsTer20 | |
| ENST00000478531.6:c.785-641_785-638del | ENSP00000420412.2:n.785-641_785-638del | |
| ENST00000489037.2:c.3780_3783del | ENSP00000420781.2:p.Ser1260ArgfsTer20 | |
| ENST00000493919.6:c.647-641_647-638del | ENSP00000418819.2:n.647-641_647-638del | |
| ENST00000494123.6:c.3858_3861del | ENSP00000419103.2:p.Ser1286ArgfsTer20 | |
| ENST00000497488.2:c.2970_2973del | ENSP00000418986.2:p.Ser990ArgfsTer20 | |
| ENST00000618469.2:c.3858_3861del | ENSP00000478114.2:p.Ser1286ArgfsTer20 | |
| ENST00000634433.2:c.3735_3738del | ENSP00000489431.2:p.Ser1245ArgfsTer20 | |
| ENST00000644379.2:c.3858_3861del | ENSP00000496570.2:p.Ser1286ArgfsTer20 | |
| ENST00000644555.2:c.647-641_647-638del | ENSP00000494614.2:n.647-641_647-638del | |
| ENST00000652672.2:c.3717_3720del | ENSP00000498906.2:p.Ser1239ArgfsTer20 | |
| ENST00000484087.6:c.665-641_665-638del | ENSP00000419481.2:n.665-641_665-638del | |
| ENST00000700182.1:c.707-641_707-638del | ENSP00000514849.1:n.707-641_707-638del | |
| ENST00000357654.9:c.3858_3861del MANE Select | ENSP00000350283.3:p.Ser1286ArgfsTer20 | |
| ENST00000471181.7:c.3858_3861del | ENSP00000418960.2:p.Ser1286ArgfsTer20 | |
| ENST00000644379.1:c.179_182del | ||
| ENST00000352993.7:c.671-641_671-638del | ENSP00000312236.5:n.671-641_671-638del | |
| ENST00000354071.7:c.3858_3861del | ENSP00000326002.7:p.Ser1286ArgfsTer20 | |
| ENST00000357654.7:c.3858_3861del | ENSP00000350283.3:p.Ser1286ArgfsTer20 | |
| ENST00000461221.5:c.*3641_*3644del | ENSP00000418548.1:n.*3641_*3644del | |
| ENST00000461574.1:c.152_155del | ||
| ENST00000468300.5:c.788-641_788-638del | ENSP00000417148.1:n.788-641_788-638del | |
| ENST00000471181.6:c.3858_3861del | ENSP00000418960.2:p.Ser1286ArgfsTer20 | |
| ENST00000478531.5:c.785-641_785-638del | ENSP00000420412.1:n.785-641_785-638del | |
| ENST00000484087.5:c.410-641_410-638del | ENSP00000419481.1:n.410-641_410-638del | |
| ENST00000487825.5:c.413-641_413-638del | ENSP00000418212.1:n.413-641_413-638del | |
| ENST00000491747.6:c.788-641_788-638del | ENSP00000420705.2:n.788-641_788-638del | |
| ENST00000493795.5:c.3717_3720del | ENSP00000418775.1:p.Ser1239ArgfsTer20 | |
| ENST00000493919.5:c.647-641_647-638del | ENSP00000418819.1:n.647-641_647-638del | |
| ENST00000586385.5:c.5-27722_5-27719del | ENSP00000465818.1:n.5-27722_5-27719del | |
| ENST00000591534.5:c.-43-17152_-43-17149del | ENSP00000467329.1:n.-43-17152_-43-17149de... | |
| ENST00000591849.5:c.-99+33598_-99+33601del | ENSP00000465347.1:n.-99+33598_-99+33601de... | |
| NM_007294.3:c.3858_3861del , LRG_292t1:c.3858_3861del | NP_009225.1:p.Ser1286ArgfsTer20 | |
| NM_007297.3:c.3717_3720del | NP_009228.2:p.Ser1239ArgfsTer20 | |
| NM_007298.3:c.788-641_788-638del | NP_009229.2:n.788-641_788-638del | |
| NM_007299.3:c.788-641_788-638del | NP_009230.2:n.788-641_788-638del | |
| NM_007300.3:c.3858_3861del | NP_009231.2:p.Ser1286ArgfsTer20 | |
| NR_027676.1:n.3994_3997del | ||
| NM_007294.4:c.3858_3861del MANE Select | NP_009225.1:p.Ser1286ArgfsTer20 | |
| NM_007297.4:c.3717_3720del | NP_009228.2:p.Ser1239ArgfsTer20 | |
| NM_007299.4:c.788-641_788-638del | NP_009230.2:n.788-641_788-638del | |
| NM_007300.4:c.3858_3861del | NP_009231.2:p.Ser1286ArgfsTer20 | |
| NR_027676.2:n.4035_4038del |