MyVariant.info:
GRCh38
chr20:g.6110494dupT
GRCh38
chr20:g.6110493_6110494insT
GRCh37
chr20:g.6091141dupT
GRCh37
chr20:g.6091140_6091141insT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6110494dup , CM000682.2:g.6110494dup | GRCh38 |
| NC_000020.10:g.6091141dup , CM000682.1:g.6091141dup | GRCh37 |
| NC_000020.9:g.6039141dup | NCBI36 |
| NG_016213.1:g.18051dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.550dup | ENSP00000514127.1:p.Ser184LysfsTer2 | |
| ENST00000699096.1:n.1012dup | ||
| ENST00000699098.1:c.550dup | ENSP00000514312.1:p.Ser184LysfsTer2 | |
| ENST00000217289.9:c.550dup MANE Select | ENSP00000217289.4:p.Ser184LysfsTer2 | |
| ENST00000217289.8:c.550dup | ENSP00000217289.4:p.Ser184LysfsTer2 | |
| ENST00000536936.1:c.-26+1983dup | ENSP00000441063.1:n.-26+1983dup | |
| NM_017671.4:c.550dup | NP_060141.3:p.Ser184LysfsTer2 | |
| XM_024451935.1:c.550dup | XP_024307703.1:p.Ser184LysfsTer2 | |
| NM_017671.5:c.550dup MANE Select | NP_060141.3:p.Ser184LysfsTer2 |