Linked Data
ClinVar Variation Id:
2636852
ClinVar RCV Id:
RCV004554148
dbSNP Id:
rs1451708328
gnomAD v3:
9-123377047-GGAGA-G
gnomAD v4:
9-123377047-GGAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123377050_123377053del , CM000671.2:g.123377050_123377053del | GRCh38 |
| NC_000009.11:g.126139329_126139332del , CM000671.1:g.126139329_126139332del | GRCh37 |
| NC_000009.10:g.125179150_125179153del | NCBI36 |
| NG_051311.1:g.27986_27989del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.3846_3849del MANE Select | ENSP00000362734.3:p.Glu1282AspfsTer? | |
| ENST00000373631.7:c.3846_3849del | ENSP00000362734.3:p.Glu1282AspfsTer? | |
| ENST00000460253.1:c.2850_2853del | ENSP00000435279.1:p.Glu950AspfsTer? | |
| NM_173689.6:c.3846_3849del | NP_775960.4:p.Glu1282AspfsTer? | |
| NR_104603.1:n.2960_2963del | ||
| XM_005251934.1:c.2850_2853del | XP_005251991.1:p.Glu950AspfsTer? | |
| XM_011518556.1:c.3819_3822del | XP_011516858.1:p.Glu1273AspfsTer? | |
| XM_011518557.1:c.3651_3654del | XP_011516859.1:p.Glu1217AspfsTer? | |
| XM_011518558.1:c.3651_3654del | XP_011516860.1:p.Glu1217AspfsTer? | |
| XM_005251934.3:c.2850_2853del | XP_005251991.1:p.Glu950AspfsTer? | |
| XM_011518556.3:c.3819_3822del | XP_011516858.1:p.Glu1273AspfsTer? | |
| XM_011518557.3:c.3651_3654del | XP_011516859.1:p.Glu1217AspfsTer? | |
| XM_011518558.3:c.3651_3654del | XP_011516860.1:p.Glu1217AspfsTer? | |
| NM_173689.7:c.3846_3849del MANE Select | NP_775960.4:p.Glu1282AspfsTer? | |
| NR_104603.2:n.2960_2963del |