Linked Data
ClinVar Variation Id:
433290
ClinVar RCV Id:
RCV000499033
dbSNP Id:
rs72664219
PubMed:
PMID:17617515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16169820_16169821insG , CM000678.2:g.16169820_16169821insG | GRCh38 |
| NC_000016.9:g.16263677_16263678insG , CM000678.1:g.16263677_16263678insG | GRCh37 |
| NC_000016.8:g.16171178_16171179insG | NCBI36 |
| NG_007558.2:g.58651_58652insC | |
| NG_007558.3:g.58797_58798insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.2820_2821insC | ENSP00000483331.2:p.Ala941ArgfsTer? | |
| ENST00000205557.12:c.2820_2821insC MANE Select | ENSP00000205557.7:p.Ala941ArgfsTer? | |
| ENST00000205557.11:c.2820_2821insC | ENSP00000205557.7:p.Ala941ArgfsTer? | |
| ENST00000456970.6:c.2645_2646insC | ENSP00000405002.2:n.2645_2646insC | |
| ENST00000622290.4:c.*29_*30insC | ENSP00000483331.1:n.*29_*30insC | |
| NM_001171.5:c.2820_2821insC | NP_001162.4:p.Ala941ArgfsTer? | |
| XM_011522479.1:c.2787_2788insC | XP_011520781.1:p.Ala930ArgfsTer? | |
| XM_011522480.1:c.2478_2479insC | XP_011520782.1:p.Ala827ArgfsTer? | |
| XM_011522481.1:c.2478_2479insC | XP_011520783.1:p.Ala827ArgfsTer? | |
| XR_932836.1:n.3055_3056insC | ||
| XR_932837.1:n.3056_3057insC | ||
| XR_932838.1:n.3056_3057insC | ||
| NM_001351800.1:c.2478_2479insC | NP_001338729.1:p.Ala827ArgfsTer? | |
| NR_147784.1:n.2682_2683insC | ||
| XM_011522479.2:c.2787_2788insC | XP_011520781.1:p.Ala930ArgfsTer? | |
| XM_011522481.3:c.2478_2479insC | XP_011520783.1:p.Ala827ArgfsTer? | |
| XM_017023212.1:c.2652_2653insC | XP_016878701.1:p.Ala885ArgfsTer? | |
| XM_017023214.1:c.2820_2821insC | XP_016878703.1:p.Ala941ArgfsTer? | |
| XM_024450261.1:c.2856_2857insC | XP_024306029.1:p.Ala953ArgfsTer? | |
| XR_932836.2:n.3001_3002insC | ||
| XR_932837.3:n.3001_3002insC | ||
| XR_932838.3:n.3001_3002insC | ||
| NM_001171.6:c.2820_2821insC MANE Select | NP_001162.5:p.Ala941ArgfsTer? |