Linked Data
dbSNP Id:
rs779273596
ExAC:
1:6529187 C / CTT
gnomAD v2:
1-6529187-C-CTT
gnomAD v3:
1-6469127-C-CTT
gnomAD v4:
1-6469127-C-CTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6469127_6469128insTT , CM000663.2:g.6469127_6469128insTT | GRCh38 |
| NC_000001.10:g.6529187_6529188insTT , CM000663.1:g.6529187_6529188insTT | GRCh37 |
| NC_000001.9:g.6451774_6451775insTT | NCBI36 |
| NG_007978.1:g.55882_55883insAA , LRG_262:g.55882_55883insAA | |
| NG_029910.1:g.2068_2069insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.2163_2164insAA | ENSP00000344570.5:p.Glu722LysfsTer? | |
| ENST00000377728.8:c.2163_2164insAA MANE Select | ENSP00000366957.3:p.Glu722LysfsTer? | |
| ENST00000377740.5:c.2163_2164insAA | ENSP00000366969.4:p.Glu722LysfsTer? | |
| ENST00000377748.6:c.2337_2338insAA | ENSP00000366977.2:p.Glu780LysfsTer? | |
| ENST00000400913.6:c.2163_2164insAA | ENSP00000383704.1:p.Glu722LysfsTer? | |
| ENST00000400915.8:c.2274_2275insAA | ENSP00000383706.4:p.Glu759LysfsTer? | |
| ENST00000489097.6:n.2639_2640insAA | ||
| ENST00000535355.6:c.2370_2371insAA | ENSP00000441445.1:p.Glu791LysfsTer? | |
| ENST00000537245.6:c.2274_2275insAA | ENSP00000439625.2:p.Glu759LysfsTer? | |
| ENST00000673471.2:c.2460_2461insAA | ENSP00000500749.1:p.Glu821LysfsTer? | |
| ENST00000674790.1:c.*2375_*2376insAA | ENSP00000502815.1:n.*2375_*2376insAA | |
| ENST00000675123.1:c.2163_2164insAA | ENSP00000502132.1:p.Glu722LysfsTer? | |
| ENST00000675139.1:n.234_235insAA | ||
| ENST00000675548.1:c.*1991_*1992insAA | ENSP00000502684.1:n.*1991_*1992insAA | |
| ENST00000675694.1:c.2163_2164insAA | ENSP00000501925.1:p.Glu722LysfsTer? | |
| ENST00000675976.1:c.36_37insAA | ENSP00000501611.1:p.Glu13LysfsTer? | |
| ENST00000340850.9:c.2163_2164insAA | ENSP00000344570.5:p.Glu722LysfsTer? | |
| ENST00000377725.5:c.2163_2164insAA | ENSP00000366954.1:p.Glu722LysfsTer? | |
| ENST00000377728.7:c.2163_2164insAA | ENSP00000366957.3:p.Glu722LysfsTer? | |
| ENST00000377732.5:c.2274_2275insAA | ENSP00000366961.1:p.Glu759LysfsTer? | |
| ENST00000377740.4:c.2394_2395insAA | ENSP00000366969.3:p.Glu799LysfsTer? | |
| ENST00000377748.5:c.2394_2395insAA | ENSP00000366977.1:p.Glu799LysfsTer? | |
| ENST00000400913.5:c.2163_2164insAA | ENSP00000383704.1:p.Glu722LysfsTer? | |
| ENST00000400915.7:c.2331_2332insAA | ENSP00000383706.3:p.Glu778LysfsTer? | |
| ENST00000487949.4:n.1365_1366insAA | ||
| ENST00000489097.5:n.2639_2640insAA | ||
| ENST00000535355.5:c.2370_2371insAA | ENSP00000441445.1:p.Glu791LysfsTer? | |
| ENST00000537245.5:c.2400_2401insAA | ENSP00000439625.1:p.Glu801LysfsTer? | |
| NM_001042663.1:c.2331_2332insAA | NP_001036128.1:p.Glu778LysfsTer? | |
| NM_001042664.1:c.2163_2164insAA | NP_001036129.1:p.Glu722LysfsTer? | |
| NM_001042665.1:c.2163_2164insAA | NP_001036130.1:p.Glu722LysfsTer? | |
| NM_001265592.1:c.2400_2401insAA | NP_001252521.1:p.Glu801LysfsTer? | |
| NM_001265593.1:c.2370_2371insAA | NP_001252522.1:p.Glu791LysfsTer? | |
| NM_001265594.1:c.2163_2164insAA | NP_001252523.1:p.Glu722LysfsTer? | |
| NM_020631.4:c.2163_2164insAA | NP_065682.2:p.Glu722LysfsTer? | |
| NM_198681.3:c.2394_2395insAA | NP_941374.2:p.Glu799LysfsTer? | |
| NM_001042663.2:c.2331_2332insAA | NP_001036128.1:p.Glu778LysfsTer? | |
| NM_001265594.2:c.2163_2164insAA | NP_001252523.1:p.Glu722LysfsTer? | |
| NM_020631.5:c.2163_2164insAA | NP_065682.2:p.Glu722LysfsTer? | |
| NM_001042663.3:c.2274_2275insAA | NP_001036128.2:p.Glu759LysfsTer? | |
| NM_001265592.2:c.2274_2275insAA | NP_001252521.2:p.Glu759LysfsTer? | |
| NM_020631.6:c.2163_2164insAA MANE Select | NP_065682.2:p.Glu722LysfsTer? | |
| NM_198681.4:c.2163_2164insAA | NP_941374.3:p.Glu722LysfsTer? |