Linked Data
dbSNP Id:
rs1258899283
gnomAD v2:
11-108129674-TTTCTTTGTTGCTTGG-T
gnomAD v3:
11-108258947-TTTCTTTGTTGCTTGG-T
gnomAD v4:
11-108258947-TTTCTTTGTTGCTTGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108258957_108258971del , CM000673.2:g.108258957_108258971del | GRCh38 |
| NC_000011.9:g.108129684_108129698del , CM000673.1:g.108129684_108129698del | GRCh37 |
| NC_000011.8:g.107634894_107634908del | NCBI36 |
| NG_009830.1:g.41126_41140del , LRG_135:g.41126_41140del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.2377-29_2377-15del | ENSP00000388058.2:n.2377-29_2377-15del | |
| ENST00000713593.1:c.*1848-29_*1848-15del | ENSP00000518889.1:n.*1848-29_*1848-15del | |
| ENST00000278616.9:c.2377-29_2377-15del | ENSP00000278616.4:n.2377-29_2377-15del | |
| ENST00000682516.1:n.2511-29_2511-15del | ||
| ENST00000683174.1:n.2527-29_2527-15del | ||
| ENST00000683605.1:n.1872-29_1872-15del | ||
| ENST00000684037.1:c.*1312-29_*1312-15del | ENSP00000508245.1:n.*1312-29_*1312-15del | |
| ENST00000527805.6:c.2377-29_2377-15del | ENSP00000435747.2:n.2377-29_2377-15del | |
| ENST00000675595.1:c.2212-29_2212-15del | ENSP00000502563.1:n.2212-29_2212-15del | |
| ENST00000675843.1:c.2377-29_2377-15del MANE Select | ENSP00000501606.1:n.2377-29_2377-15del | |
| ENST00000278616.8:c.2377-29_2377-15del | ENSP00000278616.4:n.2377-29_2377-15del | |
| ENST00000452508.6:c.2377-29_2377-15del | ENSP00000388058.2:n.2377-29_2377-15del | |
| ENST00000527805.5:c.2377-29_2377-15del | ENSP00000435747.1:n.2377-29_2377-15del | |
| NM_000051.3:c.2377-29_2377-15del , LRG_135t1:c.2377-29_2377-15del | NP_000042.3:n.2377-29_2377-15del | |
| XM_005271561.3:c.2377-29_2377-15del | XP_005271618.2:n.2377-29_2377-15del | |
| XM_005271562.3:c.2377-29_2377-15del | XP_005271619.2:n.2377-29_2377-15del | |
| XM_006718843.2:c.2377-29_2377-15del | XP_006718906.1:n.2377-29_2377-15del | |
| XM_011542840.1:c.2377-29_2377-15del | XP_011541142.1:n.2377-29_2377-15del | |
| XM_011542841.1:c.2377-29_2377-15del | XP_011541143.1:n.2377-29_2377-15del | |
| XM_011542842.1:c.2212-29_2212-15del | XP_011541144.1:n.2212-29_2212-15del | |
| XM_011542843.1:c.2377-29_2377-15del | XP_011541145.1:n.2377-29_2377-15del | |
| XM_011542844.1:c.1333-29_1333-15del | XP_011541146.1:n.1333-29_1333-15del | |
| XM_011542845.1:c.1069-29_1069-15del | XP_011541147.1:n.1069-29_1069-15del | |
| XM_011542846.1:c.2377-29_2377-15del | XP_011541148.1:n.2377-29_2377-15del | |
| NM_001351834.1:c.2377-29_2377-15del | NP_001338763.1:n.2377-29_2377-15del | |
| XM_005271562.5:c.2377-29_2377-15del | XP_005271619.2:n.2377-29_2377-15del | |
| XM_006718843.4:c.2377-29_2377-15del | XP_006718906.1:n.2377-29_2377-15del | |
| XM_011542840.3:c.2377-29_2377-15del | XP_011541142.1:n.2377-29_2377-15del | |
| XM_011542842.3:c.2212-29_2212-15del | XP_011541144.1:n.2212-29_2212-15del | |
| XM_011542843.2:c.2377-29_2377-15del | XP_011541145.1:n.2377-29_2377-15del | |
| XM_011542844.3:c.1333-29_1333-15del | XP_011541146.1:n.1333-29_1333-15del | |
| XM_011542845.2:c.1069-29_1069-15del | XP_011541147.1:n.1069-29_1069-15del | |
| XM_017017789.2:c.2377-29_2377-15del | XP_016873278.1:n.2377-29_2377-15del | |
| XM_017017790.2:c.2377-29_2377-15del | XP_016873279.1:n.2377-29_2377-15del | |
| XM_017017791.1:c.2377-29_2377-15del | XP_016873280.1:n.2377-29_2377-15del | |
| XM_017017792.2:c.2377-29_2377-15del | XP_016873281.1:n.2377-29_2377-15del | |
| XR_002957150.1:n.3110-29_3110-15del | ||
| NM_001351834.2:c.2377-29_2377-15del | NP_001338763.1:n.2377-29_2377-15del | |
| NM_000051.4:c.2377-29_2377-15del MANE Select | NP_000042.3:n.2377-29_2377-15del |