Linked Data
dbSNP Id:
rs768117273
ExAC:
5:94852413 TAA / T
gnomAD v2:
5-94852413-TAA-T
gnomAD v4:
5-95516709-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95516710_95516711del , CM000667.2:g.95516710_95516711del | GRCh38 |
| NC_000005.9:g.94852414_94852415del , CM000667.1:g.94852414_94852415del | GRCh37 |
| NC_000005.8:g.94878170_94878171del | NCBI36 |
| NG_023414.1:g.43295_43296del , LRG_173:g.43295_43296del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506007.2:n.2931_2932del | ||
| ENST00000513232.2:c.*1356_*1357del | ENSP00000422749.2:n.*1356_*1357del | |
| ENST00000698450.1:n.1860_1861del | ||
| ENST00000698451.1:n.2061_2062del | ||
| ENST00000698452.1:n.3132_3133del | ||
| ENST00000698453.1:c.2442-125_2442-124del | ENSP00000513735.1:n.2442-125_2442-124del | |
| ENST00000698454.1:c.2467_2468del | ENSP00000513736.1:p.Leu823IlefsTer? | |
| ENST00000698455.1:c.*2617_*2618del | ENSP00000513737.1:n.*2617_*2618del | |
| ENST00000698456.1:c.*1334_*1335del | ENSP00000513738.1:n.*1334_*1335del | |
| ENST00000698457.1:c.2266_2267del | ENSP00000513739.1:p.Leu756IlefsTer? | |
| ENST00000698458.1:c.2478-125_2478-124del | ENSP00000513740.1:n.2478-125_2478-124del | |
| ENST00000698459.1:c.2476_2477del | ENSP00000513741.1:p.Leu826IlefsTer? | |
| ENST00000698460.1:c.*279-125_*279-124del | ENSP00000513742.1:n.*279-125_*279-124del | |
| ENST00000698461.1:n.2931_2932del | ||
| ENST00000698462.1:n.2851_2852del | ||
| ENST00000698468.1:n.3132_3133del | ||
| ENST00000698469.1:c.*1988_*1989del | ENSP00000513743.1:n.*1988_*1989del | |
| ENST00000698470.1:c.*483_*484del | ENSP00000513744.1:n.*483_*484del | |
| ENST00000698471.1:n.2931_2932del | ||
| ENST00000698472.1:c.*1356_*1357del | ENSP00000513745.1:n.*1356_*1357del | |
| ENST00000698473.1:n.2931_2932del | ||
| ENST00000698474.1:n.2931_2932del | ||
| ENST00000698475.1:n.3016_3017del | ||
| ENST00000698476.1:c.2476_2477del | ENSP00000513746.1:p.Leu826IlefsTer? | |
| ENST00000698477.1:c.2442-125_2442-124del | ENSP00000513747.1:n.2442-125_2442-124del | |
| ENST00000698478.1:n.2931_2932del | ||
| ENST00000698479.1:c.2476_2477del | ENSP00000513748.1:p.Leu826IlefsTer? | |
| ENST00000698480.1:c.2437-125_2437-124del | ENSP00000513749.1:n.2437-125_2437-124del | |
| ENST00000698481.1:c.2437-125_2437-124del | ENSP00000513750.1:n.2437-125_2437-124del | |
| ENST00000698482.1:n.2766_2767del | ||
| ENST00000698483.1:n.2931_2932del | ||
| ENST00000698484.1:c.2476_2477del | ENSP00000513751.1:p.Leu826IlefsTer? | |
| ENST00000698485.1:c.2437-125_2437-124del | ENSP00000513752.1:n.2437-125_2437-124del | |
| ENST00000698486.1:n.2931_2932del | ||
| ENST00000698487.1:c.2476_2477del | ENSP00000513753.1:p.Leu826IlefsTer? | |
| ENST00000698488.1:c.2260-125_2260-124del | ENSP00000513754.1:n.2260-125_2260-124del | |
| ENST00000698489.1:n.6716_6717del | ||
| ENST00000698490.1:c.2476_2477del | ENSP00000513755.1:p.Leu826IlefsTer? | |
| ENST00000698492.1:c.*1191_*1192del | ENSP00000513756.1:n.*1191_*1192del | |
| ENST00000698493.1:n.2766_2767del | ||
| ENST00000698494.1:c.*371_*372del | ENSP00000513757.1:n.*371_*372del | |
| ENST00000358746.7:c.2476_2477del MANE Select | ENSP00000351596.3:p.Leu826IlefsTer? | |
| ENST00000649566.1:c.2476_2477del | ENSP00000497948.1:p.Leu826IlefsTer? | |
| ENST00000358746.6:c.2476_2477del | ENSP00000351596.2:p.Leu826IlefsTer? | |
| ENST00000506007.1:n.58_59del | ||
| ENST00000507805.5:n.663_664del | ||
| NM_014639.3:c.2476_2477del , LRG_173t1:c.2476_2477del | NP_055454.1:p.Leu826IlefsTer? | |
| XR_948312.1:n.2745_2746del | ||
| XR_001742370.2:n.2748_2749del | ||
| NM_014639.4:c.2476_2477del MANE Select | NP_055454.1:p.Leu826IlefsTer? |