Linked Data
ClinVar Variation Id:
195936
dbSNP Id:
rs761238771
ExAC:
6:65301403 CAGCTATA / C
gnomAD v2:
6-65301403-CAGCTATA-C
gnomAD v3:
6-64591510-CAGCTATA-C
gnomAD v4:
6-64591510-CAGCTATA-C
MyVariant Identifiers:
chr6:g.65301404_65301410del (hg19)
chr6:g.65301404_65301410delAGCTATA (hg19)
chr6:g.64591511_64591517del (hg38)
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.64591514_64591520del , CM000668.2:g.64591514_64591520del | GRCh38 |
| NC_000006.11:g.65301407_65301413del , CM000668.1:g.65301407_65301413del | GRCh37 |
| NC_000006.10:g.65358128_65358134del | NCBI36 |
| NG_023443.1:g.1120709_1120715del | |
| NG_023443.2:g.1120709_1120715del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.4350_4356del MANE Select | ENSP00000424243.1:p.Ile1451ProfsTer3 | |
| ENST00000370616.6:c.4350_4356del | ENSP00000359650.2:p.Ile1451ProfsTer3 | |
| ENST00000370618.7:c.4350_4356del | ENSP00000359652.4:p.Ile1451ProfsTer3 | |
| ENST00000370621.7:c.4350_4356del | ENSP00000359655.3:p.Ile1451ProfsTer3 | |
| ENST00000503581.5:c.4350_4356del | ENSP00000424243.1:p.Ile1451ProfsTer3 | |
| NM_001142800.1:c.4350_4356del | NP_001136272.1:p.Ile1451ProfsTer3 | |
| NM_001292009.1:c.4350_4356del | NP_001278938.1:p.Ile1451ProfsTer3 | |
| NM_001142800.2:c.4350_4356del MANE Select | NP_001136272.1:p.Ile1451ProfsTer3 | |
| NM_001292009.2:c.4350_4356del | NP_001278938.1:p.Ile1451ProfsTer3 |