Linked Data
dbSNP Id:
rs775844895
ExAC:
5:94852436 TCA / T
gnomAD v2:
5-94852436-TCA-T
gnomAD v4:
5-95516732-TCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95516734_95516735del , CM000667.2:g.95516734_95516735del | GRCh38 |
| NC_000005.9:g.94852438_94852439del , CM000667.1:g.94852438_94852439del | GRCh37 |
| NC_000005.8:g.94878194_94878195del | NCBI36 |
| NG_023414.1:g.43272_43273del , LRG_173:g.43272_43273del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506007.2:n.2908_2909del | ||
| ENST00000513232.2:c.*1333_*1334del | ENSP00000422749.2:n.*1333_*1334del | |
| ENST00000698450.1:n.1837_1838del | ||
| ENST00000698451.1:n.2038_2039del | ||
| ENST00000698452.1:n.3109_3110del | ||
| ENST00000698453.1:c.2442-148_2442-147del | ENSP00000513735.1:n.2442-148_2442-147del | |
| ENST00000698454.1:c.2444_2445del | ENSP00000513736.1:p.Val815GlufsTer5 | |
| ENST00000698455.1:c.*2594_*2595del | ENSP00000513737.1:n.*2594_*2595del | |
| ENST00000698456.1:c.*1311_*1312del | ENSP00000513738.1:n.*1311_*1312del | |
| ENST00000698457.1:c.2243_2244del | ENSP00000513739.1:p.Val748GlufsTer5 | |
| ENST00000698458.1:c.2478-148_2478-147del | ENSP00000513740.1:n.2478-148_2478-147del | |
| ENST00000698459.1:c.2453_2454del | ENSP00000513741.1:p.Val818GlufsTer5 | |
| ENST00000698460.1:c.*279-148_*279-147del | ENSP00000513742.1:n.*279-148_*279-147del | |
| ENST00000698461.1:n.2908_2909del | ||
| ENST00000698462.1:n.2828_2829del | ||
| ENST00000698468.1:n.3109_3110del | ||
| ENST00000698469.1:c.*1965_*1966del | ENSP00000513743.1:n.*1965_*1966del | |
| ENST00000698470.1:c.*460_*461del | ENSP00000513744.1:n.*460_*461del | |
| ENST00000698471.1:n.2908_2909del | ||
| ENST00000698472.1:c.*1333_*1334del | ENSP00000513745.1:n.*1333_*1334del | |
| ENST00000698473.1:n.2908_2909del | ||
| ENST00000698474.1:n.2908_2909del | ||
| ENST00000698475.1:n.2993_2994del | ||
| ENST00000698476.1:c.2453_2454del | ENSP00000513746.1:p.Val818GlufsTer5 | |
| ENST00000698477.1:c.2442-148_2442-147del | ENSP00000513747.1:n.2442-148_2442-147del | |
| ENST00000698478.1:n.2908_2909del | ||
| ENST00000698479.1:c.2453_2454del | ENSP00000513748.1:p.Val818GlufsTer5 | |
| ENST00000698480.1:c.2437-148_2437-147del | ENSP00000513749.1:n.2437-148_2437-147del | |
| ENST00000698481.1:c.2437-148_2437-147del | ENSP00000513750.1:n.2437-148_2437-147del | |
| ENST00000698482.1:n.2743_2744del | ||
| ENST00000698483.1:n.2908_2909del | ||
| ENST00000698484.1:c.2453_2454del | ENSP00000513751.1:p.Val818GlufsTer5 | |
| ENST00000698485.1:c.2437-148_2437-147del | ENSP00000513752.1:n.2437-148_2437-147del | |
| ENST00000698486.1:n.2908_2909del | ||
| ENST00000698487.1:c.2453_2454del | ENSP00000513753.1:p.Val818GlufsTer5 | |
| ENST00000698488.1:c.2260-148_2260-147del | ENSP00000513754.1:n.2260-148_2260-147del | |
| ENST00000698489.1:n.6693_6694del | ||
| ENST00000698490.1:c.2453_2454del | ENSP00000513755.1:p.Val818GlufsTer5 | |
| ENST00000698492.1:c.*1168_*1169del | ENSP00000513756.1:n.*1168_*1169del | |
| ENST00000698493.1:n.2743_2744del | ||
| ENST00000698494.1:c.*348_*349del | ENSP00000513757.1:n.*348_*349del | |
| ENST00000358746.7:c.2453_2454del MANE Select | ENSP00000351596.3:p.Val818GlufsTer5 | |
| ENST00000649566.1:c.2453_2454del | ENSP00000497948.1:p.Val818GlufsTer5 | |
| ENST00000358746.6:c.2453_2454del | ENSP00000351596.2:p.Val818GlufsTer5 | |
| ENST00000506007.1:n.35_36del | ||
| ENST00000507805.5:n.640_641del | ||
| NM_014639.3:c.2453_2454del , LRG_173t1:c.2453_2454del | NP_055454.1:p.Val818GlufsTer5 | |
| XR_948312.1:n.2722_2723del | ||
| XR_001742370.2:n.2725_2726del | ||
| NM_014639.4:c.2453_2454del MANE Select | NP_055454.1:p.Val818GlufsTer5 |