Linked Data
ClinVar Variation Id:
527697
dbSNP Id:
rs777858863
ExAC:
22:30035080 TACTGGA / T
gnomAD v2:
22-30035080-TACTGGA-T
gnomAD v4:
22-29639091-TACTGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29639092_29639097del , CM000684.2:g.29639092_29639097del | GRCh38 |
| NC_000022.10:g.30035081_30035086del , CM000684.1:g.30035081_30035086del | GRCh37 |
| NC_000022.9:g.28365081_28365086del | NCBI36 |
| NG_009057.1:g.40537_40542del , LRG_511:g.40537_40542del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361166.10:c.243_248del | ENSP00000354529.6:p.Leu82_Asp83del | |
| ENST00000673312.2:c.243_248del | ENSP00000500186.2:p.Leu82_Asp83del | |
| ENST00000338641.10:c.243_248del MANE Select | ENSP00000344666.5:p.Leu82_Asp83del | |
| ENST00000672461.1:c.243_248del | ENSP00000500919.1:p.Leu82_Asp83del | |
| ENST00000672805.1:c.*125_*130del | ENSP00000500295.1:n.*125_*130del | |
| ENST00000672896.1:c.243_248del | ENSP00000500117.1:p.Leu82_Asp83del | |
| ENST00000673312.1:c.156_161del | ENSP00000500186.1:p.Leu53_Asp54del | |
| ENST00000334961.11:c.115-3110_115-3105del | ENSP00000335652.7:n.115-3110_115-3105del | |
| ENST00000338641.8:c.243_248del | ENSP00000344666.4:p.Leu82_Asp83del | |
| ENST00000353887.8:c.115-3110_115-3105del | ENSP00000340626.4:n.115-3110_115-3105del | |
| ENST00000361166.8:c.243_248del | ENSP00000354529.4:p.Leu82_Asp83del | |
| ENST00000361452.8:c.240+2216_240+2221del | ENSP00000354897.4:n.240+2216_240+2221del | |
| ENST00000361676.8:c.117_122del | ENSP00000355183.4:p.Leu40_Asp41del | |
| ENST00000397789.3:c.243_248del | ENSP00000380891.3:p.Leu82_Asp83del | |
| ENST00000403435.5:c.243_248del | ENSP00000384029.1:p.Leu82_Asp83del | |
| ENST00000403999.7:c.243_248del | ENSP00000384797.3:p.Leu82_Asp83del | |
| ENST00000413209.6:c.243_248del | ENSP00000409921.2:p.Leu82_Asp83del | |
| ENST00000432151.5:c.115-3110_115-3105del | ENSP00000395885.1:n.115-3110_115-3105del | |
| NM_000268.3:c.243_248del , LRG_511t1:c.243_248del | NP_000259.1:p.Leu82_Asp83del | |
| NM_016418.5:c.243_248del , LRG_511t2:c.243_248del | NP_057502.2:p.Leu82_Asp83del | |
| NM_181825.2:c.243_248del | NP_861546.1:p.Leu82_Asp83del | |
| NM_181828.2:c.117_122del | NP_861966.1:p.Leu40_Asp41del | |
| NM_181829.2:c.240+2216_240+2221del | NP_861967.1:n.240+2216_240+2221del | |
| NM_181830.2:c.115-3110_115-3105del | NP_861968.1:n.115-3110_115-3105del | |
| NM_181831.2:c.115-3110_115-3105del | NP_861969.1:n.115-3110_115-3105del | |
| NM_181832.2:c.243_248del | NP_861970.1:p.Leu82_Asp83del | |
| NM_181833.2:c.243_248del | NP_861971.1:p.Leu82_Asp83del | |
| NR_156186.1:n.802_807del | ||
| XM_017028809.2:c.129_134del | XP_016884298.1:p.Leu44_Asp45del | |
| XM_017028810.1:c.129_134del | XP_016884299.1:p.Leu44_Asp45del | |
| NM_000268.4:c.243_248del MANE Select | NP_000259.1:p.Leu82_Asp83del | |
| NM_181825.3:c.243_248del | NP_861546.1:p.Leu82_Asp83del | |
| NM_181828.3:c.117_122del | NP_861966.1:p.Leu40_Asp41del | |
| NM_181829.3:c.240+2216_240+2221del | NP_861967.1:n.240+2216_240+2221del | |
| NM_181830.3:c.115-3110_115-3105del | NP_861968.1:n.115-3110_115-3105del | |
| NM_181831.3:c.115-3110_115-3105del | NP_861969.1:n.115-3110_115-3105del | |
| NM_181832.3:c.243_248del | NP_861970.1:p.Leu82_Asp83del | |
| NR_156186.2:n.725_730del | ||
| NM_181833.3:c.243_248del | NP_861971.1:p.Leu82_Asp83del |