Linked Data
ClinVar Variation Id:
30995
ClinVar RCV Id:
RCV002513214
dbSNP Id:
rs199473674
ExAC:
17:8140757 GCTTT / G
gnomAD v2:
17-8140757-GCTTT-G
gnomAD v3:
17-8237439-GCTTT-G
gnomAD v4:
17-8237439-GCTTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8237442_8237445del , CM000679.2:g.8237442_8237445del | GRCh38 |
| NC_000017.10:g.8140760_8140763del , CM000679.1:g.8140760_8140763del | GRCh37 |
| NC_000017.9:g.8081485_8081488del | NCBI36 |
| NG_032148.1:g.15653_15656del | |
| NG_032148.2:g.15653_15656del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000580299.2:c.724_727del | ENSP00000462607.2:p.Lys242LeufsTer? | |
| ENST00000581729.2:c.724_727del | ENSP00000462720.2:p.Lys242LeufsTer? | |
| ENST00000581967.2:n.746_749del | ||
| ENST00000583254.2:n.138_141del | ||
| ENST00000699849.1:c.-174_-171del | ENSP00000514647.1:n.-174_-171del | |
| ENST00000699850.1:n.56-1101_56-1098del | ||
| ENST00000699851.1:n.746_749del | ||
| ENST00000699852.1:c.724_727del | ENSP00000514648.1:p.Lys242LeufsTer? | |
| ENST00000699853.1:c.724_727del | ENSP00000514649.1:p.Lys242LeufsTer? | |
| ENST00000699854.1:n.517_520del | ||
| ENST00000699855.1:n.746_749del | ||
| ENST00000699856.1:c.724_727del | ENSP00000514650.1:p.Lys242LeufsTer? | |
| ENST00000699857.1:n.732_735del | ||
| ENST00000699858.1:c.724_727del | ENSP00000514651.1:p.Lys242LeufsTer? | |
| ENST00000699859.1:c.724_727del | ENSP00000514652.1:p.Lys242LeufsTer? | |
| ENST00000699861.1:n.746_749del | ||
| ENST00000699862.1:n.611_614del | ||
| ENST00000449476.7:c.648-29_648-26del | ENSP00000396018.2:n.648-29_648-26del | |
| ENST00000581671.2:n.565_568del | ||
| ENST00000643543.1:c.724_727del | ENSP00000494323.1:p.Lys242LeufsTer? | |
| ENST00000651323.1:c.724_727del MANE Select | ENSP00000498499.1:p.Lys242LeufsTer? | |
| ENST00000315684.12:c.724_727del | ENSP00000313759.8:p.Lys242LeufsTer? | |
| ENST00000449476.6:c.648-29_648-26del | ENSP00000396018.2:n.648-29_648-26del | |
| ENST00000581671.1:n.565_568del | ||
| NM_025099.5:c.724_727del | NP_079375.3:p.Lys242LeufsTer? | |
| NR_046431.1:n.707-29_707-26del | ||
| XM_006721577.2:c.724_727del | XP_006721640.1:p.Lys242LeufsTer? | |
| XM_006721578.2:c.724_727del | XP_006721641.1:p.Lys242LeufsTer? | |
| XM_006721579.2:c.724_727del | XP_006721642.1:p.Lys242LeufsTer? | |
| XM_011524010.1:c.648-29_648-26del | XP_011522312.1:n.648-29_648-26del | |
| XM_011524011.1:c.-178_-175del | XP_011522313.1:n.-178_-175del | |
| XR_429823.2:n.767_770del | ||
| XR_429824.2:n.767_770del | ||
| XR_429825.1:n.767_770del | ||
| NM_025099.6:c.724_727del MANE Select | NP_079375.3:p.Lys242LeufsTer? | |
| XM_006721577.3:c.724_727del | XP_006721640.1:p.Lys242LeufsTer? | |
| XM_006721578.3:c.724_727del | XP_006721641.1:p.Lys242LeufsTer? | |
| XM_011524010.2:c.648-29_648-26del | XP_011522312.1:n.648-29_648-26del | |
| XM_011524011.2:c.-178_-175del | XP_011522313.1:n.-178_-175del | |
| XR_001752639.1:n.767_770del | ||
| XR_001752640.1:n.767_770del | ||
| XR_001752641.1:n.767_770del | ||
| XR_001752642.1:n.767_770del | ||
| XR_001752643.1:n.767_770del | ||
| XR_001752644.1:n.767_770del | ||
| XR_002958073.1:n.767_770del | ||
| XR_429823.3:n.767_770del | ||
| XR_429824.3:n.767_770del | ||
| NR_046431.2:n.668-29_668-26del |