Linked Data
ClinVar Variation Id:
24229
ClinVar RCV Id:
RCV001052220
dbSNP Id:
rs281874760
PubMed:
PMID:20378821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108440190_108440202del , CM000685.2:g.108440190_108440202del | GRCh38 |
| NC_000023.10:g.107683420_107683432del , CM000685.1:g.107683420_107683432del | GRCh37 |
| NC_000023.9:g.107570076_107570088del | NCBI36 |
| NG_011977.1:g.5267_5279del | |
| NG_012059.2:g.4276_4288del | |
| NG_011977.2:g.5267_5279del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.65_77del MANE Select | ENSP00000331902.7:p.Gln22LeufsTer18 | |
| ENST00000361603.7:c.65_77del | ENSP00000354505.2:p.Gln22LeufsTer18 | |
| ENST00000642185.1:c.65_77del | ENSP00000495101.1:p.Gln22LeufsTer11 | |
| ENST00000328300.10:c.65_77del | ENSP00000331902.6:p.Gln22LeufsTer18 | |
| ENST00000361603.6:c.65_77del | ENSP00000354505.2:p.Gln22LeufsTer18 | |
| ENST00000470339.1:n.249_261del | ||
| ENST00000477429.1:n.347_359del | ||
| NM_000495.4:c.65_77del | NP_000486.1:p.Gln22LeufsTer18 | |
| NM_033380.2:c.65_77del | NP_203699.1:p.Gln22LeufsTer18 | |
| XM_005262070.2:c.65_77del | XP_005262127.1:p.Gln22LeufsTer18 | |
| XM_005262072.3:c.65_77del | XP_005262129.1:p.Gln22LeufsTer18 | |
| XM_006724616.2:c.65_77del | XP_006724679.1:p.Gln22LeufsTer18 | |
| XM_011530850.1:c.65_77del | XP_011529152.1:p.Gln22LeufsTer18 | |
| NM_000495.5:c.65_77del | NP_000486.1:p.Gln22LeufsTer18 | |
| NM_033380.3:c.65_77del MANE Select | NP_203699.1:p.Gln22LeufsTer18 |