Linked Data
ClinVar Variation Id:
200891
dbSNP Id:
rs794728565
gnomAD v4:
11-2527942-TG-T
PubMed:
PMID:19716085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2527944del , CM000673.2:g.2527944del | GRCh38 |
| NC_000011.9:g.2549174del , CM000673.1:g.2549174del | GRCh37 |
| NC_000011.8:g.2505750del | NCBI36 |
| NG_008935.1:g.87954del , LRG_287:g.87954del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380776.5:n.200del | ||
| ENST00000496887.7:c.142del | ENSP00000434560.2:p.Val48SerfsTer? | |
| ENST00000646564.2:c.403del | ENSP00000495806.2:p.Val135SerfsTer? | |
| ENST00000155840.12:c.403del MANE Select | ENSP00000155840.2:p.Val135SerfsTer? | |
| ENST00000335475.6:c.22del | ENSP00000334497.5:p.Val8SerfsTer? | |
| ENST00000646564.1:c.49del | ENSP00000495806.1:p.Val17SerfsTer? | |
| ENST00000155840.9:c.403del | ENSP00000155840.2:p.Val135SerfsTer? | |
| ENST00000335475.5:c.22del | ENSP00000334497.5:p.Val8SerfsTer? | |
| ENST00000345015.4:n.272del | ||
| ENST00000380776.4:c.193del | ENSP00000370153.4:p.Val65SerfsTer? | |
| ENST00000496887.6:c.142del | ENSP00000434560.1:p.Val48SerfsTer? | |
| NM_000218.2:c.403del , LRG_287t1:c.403del | NP_000209.2:p.Val135SerfsTer? | |
| NM_181798.1:c.22del , LRG_287t2:c.22del | NP_861463.1:p.Val8SerfsTer? | |
| NM_000218.3:c.403del MANE Select | NP_000209.2:p.Val135SerfsTer? |