Linked Data
ClinVar Variation Id:
6652
dbSNP Id:
rs769982050
ExAC:
3:15497518 AG / A
gnomAD v2:
3-15497518-AG-A
gnomAD v3:
3-15456011-AG-A
gnomAD v4:
3-15456011-AG-A
MyVariant Identifiers:
chr3:g.15497519del (hg19)
chr3:g.15456013del (hg38)
chr3:g.15456012del (hg38)
PubMed:
PMID:9689136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15456015del , CM000665.2:g.15456015del | GRCh38 |
| NC_000003.11:g.15497522del , CM000665.1:g.15497522del | GRCh37 |
| NC_000003.10:g.15472526del | NCBI36 |
| NG_009032.1:g.70740del | |
| NG_009032.2:g.70740del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383788.10:c.1082del MANE Select | ENSP00000373298.3:p.Pro361LeufsTer? | |
| ENST00000604401.2:n.938del | ||
| ENST00000679838.1:c.*844del | ENSP00000505708.1:n.*844del | |
| ENST00000680240.1:n.994del | ||
| ENST00000680545.1:n.848del | ||
| ENST00000681097.1:c.*96del | ENSP00000505397.1:n.*96del | |
| ENST00000681222.1:n.4573del | ||
| ENST00000383781.8:c.1052del | ENSP00000373291.3:p.Pro351LeufsTer? | |
| ENST00000383786.9:c.980del | ENSP00000373296.3:p.Pro327LeufsTer? | |
| ENST00000383788.9:c.1082del | ENSP00000373298.3:p.Pro361LeufsTer? | |
| ENST00000603808.5:c.1082del | ENSP00000474271.1:p.Pro361LeufsTer? | |
| NM_005677.3:c.1082del | NP_005668.2:p.Pro361LeufsTer? | |
| NM_080538.2:c.1052del | NP_536799.1:p.Pro351LeufsTer? | |
| NM_080539.3:c.980del | NP_536800.2:p.Pro327LeufsTer? | |
| NM_005677.4:c.1082del MANE Select | NP_005668.2:p.Pro361LeufsTer? | |
| NM_080539.4:c.980del | NP_536800.2:p.Pro327LeufsTer? |