Linked Data
ClinVar Variation Id:
17882
ClinVar RCV Id:
RCV000019471
dbSNP Id:
rs397514255
gnomAD v2:
2-21234276-GC-G
gnomAD v4:
2-21011404-GC-G
PubMed:
PMID:2843815
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21011405del , CM000664.2:g.21011405del | GRCh38 |
| NC_000002.11:g.21234277del , CM000664.1:g.21234277del | GRCh37 |
| NC_000002.10:g.21087782del | NCBI36 |
| NG_011793.1:g.37669del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673739.2:c.*4769del | ENSP00000501110.2:n.*4769del | |
| ENST00000673739.1:c.5177del | ENSP00000501110.1:n.5177del | |
| ENST00000233242.5:c.5463del MANE Select | ENSP00000233242.1:p.His1822MetfsTer6 | |
| ENST00000616098.4:c.5463del | ENSP00000477990.1:p.His1822MetfsTer6 | |
| NM_000384.2:c.5463del | NP_000375.2:p.His1822MetfsTer6 | |
| XM_011532809.1:c.5463del | XP_011531111.1:p.His1822MetfsTer6 | |
| NM_000384.3:c.5463del MANE Select | NP_000375.3:p.His1822MetfsTer6 |