Linked Data
ClinVar Variation Id:
133180
ClinVar RCV Id:
RCV000013850
RCV000119679
RCV000171131
RCV001787982
RCV001787984
RCV001787979
RCV001787980
RCV001787981
RCV001384027
RCV001787983
RCV001787985
dbSNP Id:
rs121918596
ExAC:
19:38990284 TGGA / T
gnomAD v2:
19-38990284-TGGA-T
gnomAD v3:
19-38499644-TGGA-T
gnomAD v4:
19-38499644-TGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38499649_38499651del , CM000681.2:g.38499649_38499651del | GRCh38 |
| NC_000019.9:g.38990289_38990291del , CM000681.1:g.38990289_38990291del | GRCh37 |
| NC_000019.8:g.43682129_43682131del | NCBI36 |
| NG_008866.1:g.70950_70952del , LRG_766:g.70950_70952del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7042_7044del | ENSP00000471601.2:p.Glu2348del | |
| ENST00000359596.8:c.7042_7044del MANE Select | ENSP00000352608.2:p.Glu2348del | |
| ENST00000355481.8:c.7042_7044del | ENSP00000347667.3:p.Glu2348del | |
| ENST00000359596.7:c.7042_7044del | ENSP00000352608.2:p.Glu2348del | |
| ENST00000360985.7:c.7039_7041del | ENSP00000354254.4:p.Glu2347del | |
| ENST00000594335.5:c.494_496del | ||
| NM_000540.2:c.7042_7044del , LRG_766t1:c.7042_7044del | NP_000531.2:p.Glu2348del | |
| NM_001042723.1:c.7042_7044del | NP_001036188.1:p.Glu2348del | |
| XM_006723317.1:c.7042_7044del | XP_006723380.1:p.Glu2348del | |
| XM_006723319.1:c.7042_7044del | XP_006723382.1:p.Glu2348del | |
| XM_011527204.1:c.7039_7041del | XP_011525506.1:p.Glu2347del | |
| XM_011527205.1:c.7042_7044del | XP_011525507.1:p.Glu2348del | |
| XM_006723317.2:c.7042_7044del | XP_006723380.1:p.Glu2348del | |
| XM_006723319.2:c.7042_7044del | XP_006723382.1:p.Glu2348del | |
| XM_011527205.2:c.7042_7044del | XP_011525507.1:p.Glu2348del | |
| XR_001753735.1:n.7125_7127del | ||
| NM_000540.3:c.7042_7044del MANE Select | NP_000531.2:p.Glu2348del | |
| NM_001042723.2:c.7042_7044del | NP_001036188.1:p.Glu2348del |