Linked Data
ClinVar Variation Id:
31236
dbSNP Id:
rs746874042
ExAC:
5:94852115 TAAAAA / T
gnomAD v2:
5-94852115-TAAAAA-T
gnomAD v3:
5-95516411-TAAAAA-T
gnomAD v4:
5-95516411-TAAAAA-T
MyVariant Identifiers:
chr5:g.94852116_94852120del (hg19)
chr5:g.95516413_95516417del (hg38)
chr5:g.95516412_95516416del (hg38)
PubMed:
PMID:21120949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95516413_95516417del , CM000667.2:g.95516413_95516417del | GRCh38 |
| NC_000005.9:g.94852117_94852121del , CM000667.1:g.94852117_94852121del | GRCh37 |
| NC_000005.8:g.94877873_94877877del | NCBI36 |
| NG_023414.1:g.43590_43594del , LRG_173:g.43590_43594del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506007.2:n.3118-7_3118-3del | ||
| ENST00000513232.2:c.*1543-7_*1543-3del | ENSP00000422749.2:n.*1543-7_*1543-3del | |
| ENST00000698450.1:n.1962-7_1962-3del | ||
| ENST00000698451.1:n.2248-7_2248-3del | ||
| ENST00000698452.1:n.3319-7_3319-3del | ||
| ENST00000698453.1:c.2504-7_2504-3del | ENSP00000513735.1:n.2504-7_2504-3del | |
| ENST00000698454.1:c.2569-7_2569-3del | ENSP00000513736.1:n.2569-7_2569-3del | |
| ENST00000698455.1:c.*2804-7_*2804-3del | ENSP00000513737.1:n.*2804-7_*2804-3del | |
| ENST00000698456.1:c.*1436-7_*1436-3del | ENSP00000513738.1:n.*1436-7_*1436-3del | |
| ENST00000698457.1:c.2368-7_2368-3del | ENSP00000513739.1:n.2368-7_2368-3del | |
| ENST00000698458.1:c.2540-7_2540-3del | ENSP00000513740.1:n.2540-7_2540-3del | |
| ENST00000698459.1:c.2578-7_2578-3del | ENSP00000513741.1:n.2578-7_2578-3del | |
| ENST00000698460.1:c.*341-7_*341-3del | ENSP00000513742.1:n.*341-7_*341-3del | |
| ENST00000698461.1:n.3033-7_3033-3del | ||
| ENST00000698462.1:n.2953-7_2953-3del | ||
| ENST00000698468.1:n.3319-7_3319-3del | ||
| ENST00000698469.1:c.*2175-7_*2175-3del | ENSP00000513743.1:n.*2175-7_*2175-3del | |
| ENST00000698470.1:c.*670-7_*670-3del | ENSP00000513744.1:n.*670-7_*670-3del | |
| ENST00000698471.1:n.3118-7_3118-3del | ||
| ENST00000698472.1:c.*1543-7_*1543-3del | ENSP00000513745.1:n.*1543-7_*1543-3del | |
| ENST00000698473.1:n.3118-7_3118-3del | ||
| ENST00000698474.1:n.3118-7_3118-3del | ||
| ENST00000698475.1:n.3203-7_3203-3del | ||
| ENST00000698476.1:c.2578-7_2578-3del | ENSP00000513746.1:n.2578-7_2578-3del | |
| ENST00000698477.1:c.2504-7_2504-3del | ENSP00000513747.1:n.2504-7_2504-3del | |
| ENST00000698478.1:n.3118-7_3118-3del | ||
| ENST00000698479.1:c.2578-7_2578-3del | ENSP00000513748.1:n.2578-7_2578-3del | |
| ENST00000698480.1:c.2499-7_2499-3del | ENSP00000513749.1:n.2499-7_2499-3del | |
| ENST00000698481.1:c.2499-7_2499-3del | ENSP00000513750.1:n.2499-7_2499-3del | |
| ENST00000698482.1:n.2868-7_2868-3del | ||
| ENST00000698483.1:n.3033-7_3033-3del | ||
| ENST00000698484.1:c.2578-7_2578-3del | ENSP00000513751.1:n.2578-7_2578-3del | |
| ENST00000698485.1:c.2499-7_2499-3del | ENSP00000513752.1:n.2499-7_2499-3del | |
| ENST00000698486.1:n.3118-7_3118-3del | ||
| ENST00000698487.1:c.2578-7_2578-3del | ENSP00000513753.1:n.2578-7_2578-3del | |
| ENST00000698488.1:c.2322-7_2322-3del | ENSP00000513754.1:n.2322-7_2322-3del | |
| ENST00000698489.1:n.6903-7_6903-3del | ||
| ENST00000698490.1:c.2578-7_2578-3del | ENSP00000513755.1:n.2578-7_2578-3del | |
| ENST00000698492.1:c.*1293-7_*1293-3del | ENSP00000513756.1:n.*1293-7_*1293-3del | |
| ENST00000698493.1:n.2868-7_2868-3del | ||
| ENST00000698494.1:c.*558-7_*558-3del | ENSP00000513757.1:n.*558-7_*558-3del | |
| ENST00000358746.7:c.2578-7_2578-3del MANE Select | ENSP00000351596.3:n.2578-7_2578-3del | |
| ENST00000649566.1:c.2578-7_2578-3del | ENSP00000497948.1:n.2578-7_2578-3del | |
| ENST00000358746.6:c.2578-7_2578-3del | ENSP00000351596.2:n.2578-7_2578-3del | |
| ENST00000506007.1:n.245-7_245-3del | ||
| ENST00000507805.5:n.850-7_850-3del | ||
| ENST00000508181.5:n.151-7_151-3del | ||
| NM_014639.3:c.2578-7_2578-3del , LRG_173t1:c.2578-7_2578-3del | NP_055454.1:n.2578-7_2578-3del | |
| XR_948312.1:n.2847-7_2847-3del | ||
| XR_001742370.2:n.2850-7_2850-3del | ||
| NM_014639.4:c.2578-7_2578-3del MANE Select | NP_055454.1:n.2578-7_2578-3del |