Linked Data
gnomAD v2:
17-73518031-G-GAGCCGGTA
MyVariant Identifiers:
chr17:g.73518031_73518032insAGCCGGTA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75521954_75521961dup , CM000679.2:g.75521954_75521961dup | GRCh38 |
| NC_000017.10:g.73518035_73518042dup , CM000679.1:g.73518035_73518042dup | GRCh37 |
| NC_000017.9:g.71029630_71029637dup | NCBI36 |
| NG_013041.1:g.10427_10434dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.873_880dup MANE Select | ENSP00000327487.6:p.Arg294ProfsTer? | |
| ENST00000434205.8:c.570_577dup | ENSP00000406559.4:p.Arg193ProfsTer? | |
| ENST00000545228.3:c.873_880dup | ENSP00000438169.3:p.Arg294ProfsTer? | |
| ENST00000579449.2:n.672_679dup | ||
| ENST00000580013.6:n.1076_1083dup | ||
| ENST00000679370.1:n.1454_1461dup | ||
| ENST00000679429.1:c.*331_*338dup | ENSP00000505403.1:n.*331_*338dup | |
| ENST00000679443.1:n.942_949dup | ||
| ENST00000679782.1:c.873_880dup | ENSP00000505995.1:p.Arg294ProfsTer? | |
| ENST00000679919.1:n.942_949dup | ||
| ENST00000679928.1:c.*484_*491dup | ENSP00000506071.1:n.*484_*491dup | |
| ENST00000680528.1:n.898_905dup | ||
| ENST00000680999.1:c.873_880dup | ENSP00000504984.1:p.Arg294ProfsTer? | |
| ENST00000681282.1:c.*119_*126dup | ENSP00000506339.1:n.*119_*126dup | |
| ENST00000333213.10:c.873_880dup | ENSP00000327487.6:p.Arg294ProfsTer? | |
| ENST00000578415.1:c.833_840dup | ||
| ENST00000583173.5:c.459-53_459-46dup | ENSP00000463619.1:n.459-53_459-46dup | |
| NM_207346.2:c.873_880dup | NP_997229.2:p.Arg294ProfsTer? | |
| XM_005257229.2:c.873_880dup | XP_005257286.1:p.Arg294ProfsTer? | |
| XM_006721821.2:c.570_577dup | XP_006721884.1:p.Arg193ProfsTer? | |
| XM_011524616.1:c.873_880dup | XP_011522918.1:p.Arg294ProfsTer? | |
| XM_011524617.1:c.873_880dup | XP_011522919.1:p.Arg294ProfsTer? | |
| XM_011524618.1:c.873_880dup | XP_011522920.1:p.Arg294ProfsTer? | |
| XR_243646.2:n.903_910dup | ||
| XM_005257229.4:c.873_880dup | XP_005257286.1:p.Arg294ProfsTer? | |
| XR_243646.4:n.909_916dup | ||
| NM_207346.3:c.873_880dup MANE Select | NP_997229.2:p.Arg294ProfsTer? |