Linked Data
ClinVar Variation Id:
802720
ClinVar RCV Id:
RCV000988637
dbSNP Id:
rs1591499502
gnomAD v2:
11-108114676-TAAGA-T
gnomAD v3:
11-108243949-TAAGA-T
gnomAD v4:
11-108243949-TAAGA-T
MyVariant Identifiers:
chr11:g.108114678_108114681del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108243951_108243954del , CM000673.2:g.108243951_108243954del | GRCh38 |
| NC_000011.9:g.108114678_108114681del , CM000673.1:g.108114678_108114681del | GRCh37 |
| NC_000011.8:g.107619888_107619891del | NCBI36 |
| NG_009830.1:g.26120_26123del , LRG_135:g.26120_26123del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.497-2_498del | ||
| ENST00000713593.1:c.497-24_497-21del | ENSP00000518889.1:n.497-24_497-21del | |
| ENST00000278616.9:c.497-2_498del | ||
| ENST00000682430.1:n.596-2_597del | ||
| ENST00000682516.1:n.631-2_632del | ||
| ENST00000682956.1:n.631-2_632del | ||
| ENST00000683100.1:n.2173_2176del | ||
| ENST00000683174.1:n.647-2_648del | ||
| ENST00000684037.1:c.497-2_498del | ||
| ENST00000684061.1:n.631-2_632del | ||
| ENST00000684179.1:n.466-2_467del | ||
| ENST00000527805.6:c.497-2_498del | ||
| ENST00000675595.1:c.332-2_333del | ||
| ENST00000675843.1:c.497-2_498del | ||
| ENST00000278616.8:c.497-2_498del | ||
| ENST00000452508.6:c.497-2_498del | ||
| ENST00000527805.5:c.497-2_498del | ||
| ENST00000527891.5:c.332-2_333del | ||
| NM_000051.3:c.497-2_498del , LRG_135t1:c.497-2_498del | ||
| XM_005271561.3:c.497-2_498del | ||
| XM_005271562.3:c.497-2_498del | ||
| XM_006718843.2:c.497-2_498del | ||
| XM_011542840.1:c.497-2_498del | ||
| XM_011542841.1:c.497-2_498del | ||
| XM_011542842.1:c.332-2_333del | ||
| XM_011542843.1:c.497-2_498del | ||
| XM_011542844.1:c.-526-24_-526-21del | XP_011541146.1:n.-526-24_-526-21del | |
| XM_011542846.1:c.497-2_498del | ||
| NM_001351834.1:c.497-2_498del | ||
| XM_005271562.5:c.497-2_498del | ||
| XM_006718843.4:c.497-2_498del | ||
| XM_011542840.3:c.497-2_498del | ||
| XM_011542842.3:c.332-2_333del | ||
| XM_011542843.2:c.497-2_498del | ||
| XM_011542844.3:c.-526-24_-526-21del | XP_011541146.1:n.-526-24_-526-21del | |
| XM_017017789.2:c.497-2_498del | ||
| XM_017017790.2:c.497-2_498del | ||
| XM_017017791.1:c.497-2_498del | ||
| XM_017017792.2:c.497-2_498del | ||
| XR_002957150.1:n.1230-2_1231del | ||
| NM_001351834.2:c.497-2_498del | ||
| NM_000051.4:c.497-2_498del |