Linked Data
ClinVar Variation Id:
97307
ClinVar RCV Id:
RCV000083553
dbSNP Id:
rs72558438
PubMed:
PMID:9452049
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38408889_38408897del , CM000685.2:g.38408889_38408897del | GRCh38 |
| NC_000023.10:g.38268142_38268150del , CM000685.1:g.38268142_38268150del | GRCh37 |
| NC_000023.9:g.38153086_38153094del | NCBI36 |
| NG_008471.1:g.61407_61415del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.731_739del MANE Select | ENSP00000039007.4:p.Leu244_Thr247delinsPro | |
| ENST00000643344.1:c.*481_*489del | ENSP00000496606.1:n.*481_*489del | |
| ENST00000039007.4:c.731_739del | ENSP00000039007.4:p.Leu244_Thr247delinsPro | |
| ENST00000465127.1:c.172-257232_172-257224del | ENSP00000417050.1:n.172-257232_172-257224del | |
| NM_000531.5:c.731_739del | NP_000522.3:p.Leu244_Thr247delinsPro | |
| XM_017029556.1:c.731_739del | XP_016885045.1:p.Leu244_Thr247delinsPro | |
| NM_000531.6:c.731_739del MANE Select | NP_000522.3:p.Leu244_Thr247delinsPro |