Linked Data
ClinVar Variation Id:
285045
ClinVar RCV Id:
RCV000282657
RCV000725574
RCV000779060
RCV002279720
RCV002279719
RCV002222473
RCV003401250
dbSNP Id:
rs772962160
ExAC:
11:36595109 TAA / T
gnomAD v2:
11-36595109-TAA-T
gnomAD v3:
11-36573559-TAA-T
gnomAD v4:
11-36573559-TAA-T
ERepo:
CA5949936/MONDO:0000572/123
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36573560_36573561del , CM000673.2:g.36573560_36573561del | GRCh38 |
| NC_000011.9:g.36595110_36595111del , CM000673.1:g.36595110_36595111del | GRCh37 |
| NC_000011.8:g.36551686_36551687del | NCBI36 |
| NG_007528.1:g.10548_10549del , LRG_98:g.10548_10549del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697713.1:c.256_257del | ENSP00000513411.1:p.Lys86ValfsTer? | |
| ENST00000697714.1:c.256_257del | ENSP00000513412.1:p.Lys86ValfsTer? | |
| ENST00000697715.1:c.256_257del | ENSP00000513413.1:p.Lys86ValfsTer? | |
| ENST00000299440.6:c.256_257del MANE Select | ENSP00000299440.5:p.Lys86ValfsTer? | |
| ENST00000299440.5:c.256_257del | ENSP00000299440.5:p.Lys86ValfsTer? | |
| ENST00000534663.1:c.256_257del | ENSP00000434610.1:p.Lys86ValfsTer? | |
| NM_000448.2:c.256_257del , LRG_98t1:c.256_257del | NP_000439.1:p.Lys86ValfsTer? | |
| XM_005253041.3:c.256_257del | XP_005253098.1:p.Lys86ValfsTer? | |
| XM_011520250.1:c.256_257del | XP_011518552.1:p.Lys86ValfsTer? | |
| XM_011520251.1:c.256_257del | XP_011518553.1:p.Lys86ValfsTer? | |
| XM_005253041.4:c.256_257del | XP_005253098.1:p.Lys86ValfsTer? | |
| XM_011520250.2:c.256_257del | XP_011518552.1:p.Lys86ValfsTer? | |
| NM_000448.3:c.256_257del MANE Select | NP_000439.2:p.Lys86ValfsTer? | |
| NM_001377277.1:c.256_257del | NP_001364206.1:p.Lys86ValfsTer? | |
| NM_001377278.1:c.256_257del | NP_001364207.1:p.Lys86ValfsTer? | |
| NM_001377279.1:c.256_257del | NP_001364208.1:p.Lys86ValfsTer? | |
| NM_001377280.1:c.256_257del | NP_001364209.1:p.Lys86ValfsTer? |