Linked Data
ClinVar Variation Id:
228391
dbSNP Id:
rs876657719
gnomAD v4:
X-83508926-TCAAA-T
PubMed:
PMID:7839145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83508931_83508934del , CM000685.2:g.83508931_83508934del | GRCh38 |
| NC_000023.10:g.82763939_82763942del , CM000685.1:g.82763939_82763942del | GRCh37 |
| NC_000023.9:g.82650595_82650598del | NCBI36 |
| NG_009936.2:g.5671_5674del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644024.2:c.607_610del MANE Select | ENSP00000495996.1:p.Gln203GlufsTer? | |
| ENST00000373200.4:c.607_610del | ENSP00000362296.2:p.Gln203GlufsTer? | |
| NM_000307.4:c.607_610del | NP_000298.3:p.Gln203GlufsTer? | |
| NM_000307.5:c.607_610del MANE Select | NP_000298.3:p.Gln203GlufsTer? |