Linked Data
gnomAD v2:
18-48605019-C-CTTT
MyVariant Identifiers:
chr18:g.48605019_48605020insTTT (hg19)
chr18:g.51078649_51078650insTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51078650_51078651insTTT , CM000680.2:g.51078650_51078651insTTT | GRCh38 |
| NC_000018.9:g.48605020_48605021insTTT , CM000680.1:g.48605020_48605021insTTT | GRCh37 |
| NC_000018.8:g.46859018_46859019insTTT | NCBI36 |
| NG_013013.2:g.115611_115612insTTT , LRG_318:g.115611_115612insTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.*183_*184insTTT | ENSP00000465878.2:n.*183_*184insTTT | |
| ENST00000589076.6:c.*183_*184insTTT | ENSP00000466934.2:n.*183_*184insTTT | |
| ENST00000589941.2:c.*183_*184insTTT | ENSP00000465874.2:n.*183_*184insTTT | |
| ENST00000590061.2:c.*183_*184insTTT | ENSP00000464772.2:n.*183_*184insTTT | |
| ENST00000593223.2:c.*1839_*1840insTTT | ENSP00000466118.2:n.*1839_*1840insTTT | |
| ENST00000611848.2:c.*494_*495insTTT | ENSP00000478613.2:n.*494_*495insTTT | |
| ENST00000684953.1:n.3857_3858insTTT | ||
| ENST00000685090.1:n.3772_3773insTTT | ||
| ENST00000685232.1:n.2063_2064insTTT | ||
| ENST00000688574.1:n.1950_1951insTTT | ||
| ENST00000691124.1:n.4803_4804insTTT | ||
| ENST00000342988.8:c.*183_*184insTTT MANE Select | ENSP00000341551.3:n.*183_*184insTTT | |
| ENST00000342988.7:c.*183_*184insTTT | ENSP00000341551.3:n.*183_*184insTTT | |
| ENST00000398417.6:c.*183_*184insTTT | ENSP00000381452.1:n.*183_*184insTTT | |
| ENST00000586253.1:n.564_565insTTT | ||
| ENST00000591126.5:n.3843_3844insTTT | ||
| ENST00000611848.1:c.1155_1156insTTT | ||
| NM_005359.5:c.*183_*184insTTT , LRG_318t1:c.*183_*184insTTT | NP_005350.1:n.*183_*184insTTT | |
| NM_005359.6:c.*183_*184insTTT MANE Select | NP_005350.1:n.*183_*184insTTT |