Linked Data
ClinVar Variation Id:
522886
ClinVar RCV Id:
RCV000626077
dbSNP Id:
rs1553503725
gnomAD v2:
2-183730998-TG-T
gnomAD v4:
2-182866270-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182866273del , CM000664.2:g.182866273del | GRCh38 |
| NC_000002.11:g.183731001del , CM000664.1:g.183731001del | GRCh37 |
| NC_000002.10:g.183439246del | NCBI36 |
| NG_017197.1:g.5500del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295113.5:c.282del MANE Select | ENSP00000295113.4:p.Ile95SerfsTer? | |
| ENST00000295113.4:c.282del | ENSP00000295113.4:p.Ile95SerfsTer? | |
| NM_001463.3:c.282del | NP_001454.2:p.Ile95SerfsTer? | |
| NM_001463.4:c.282del MANE Select | NP_001454.2:p.Ile95SerfsTer? |