Linked Data
dbSNP Id:
rs1457101891
gnomAD v2:
11-134132676-A-AG
gnomAD v4:
11-134262782-A-AG
MyVariant Identifiers:
chr11:g.134132676_134132677insG (hg19)
chr11:g.134262782_134262783insG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134262786dup , CM000673.2:g.134262786dup | GRCh38 |
| NC_000011.9:g.134132680dup , CM000673.1:g.134132680dup | GRCh37 |
| NC_000011.8:g.133637890dup | NCBI36 |
| NG_015842.1:g.14247dup , LRG_448:g.14247dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281182.9:c.1195+164dup MANE Select | ENSP00000281182.5:n.1195+164dup | |
| ENST00000281182.8:c.1195+164dup | ENSP00000281182.4:n.1195+164dup | |
| ENST00000374752.6:c.814+164dup | ENSP00000363884.4:n.814+164dup | |
| ENST00000524502.2:n.212dup | ||
| ENST00000526026.5:c.*901dup | ENSP00000431532.1:n.*901dup | |
| ENST00000531338.5:n.1603dup | ||
| ENST00000533387.5:n.2254+164dup | ||
| NM_014384.2:c.1195+164dup , LRG_448t1:c.1195+164dup | NP_055199.1:n.1195+164dup | |
| XM_005271501.2:c.1212dup | XP_005271558.1:p.Pro405AlafsTer? | |
| XM_011542750.1:c.1195+164dup | XP_011541052.1:n.1195+164dup | |
| XR_947819.1:n.1259+164dup | ||
| XR_947820.1:n.1811dup | ||
| XR_947822.1:n.1089+164dup | ||
| XR_947823.1:n.1245+164dup | ||
| XM_005271505.4:c.*1460+164dup | XP_005271562.1:n.*1460+164dup | |
| XM_011542750.3:c.1195+164dup | XP_011541052.1:n.1195+164dup | |
| XM_017017542.2:c.1195+164dup | XP_016873031.1:n.1195+164dup | |
| XM_017017543.2:c.1212dup | XP_016873032.1:p.Pro405AlafsTer? | |
| XM_017017544.2:c.*164+164dup | XP_016873033.1:n.*164+164dup | |
| XM_017017545.2:c.*571dup | XP_016873034.1:n.*571dup | |
| XM_017017546.2:c.901+164dup | XP_016873035.1:n.901+164dup | |
| XM_017017547.2:c.901+164dup | XP_016873036.1:n.901+164dup | |
| XM_017017548.2:c.*1848dup | XP_016873037.1:n.*1848dup | |
| XM_017017549.2:c.*1605+164dup | XP_016873038.1:n.*1605+164dup | |
| XM_024448437.1:c.*506dup | XP_024304205.1:n.*506dup | |
| XM_024448438.1:c.814+164dup | XP_024304206.1:n.814+164dup | |
| NM_014384.3:c.1195+164dup MANE Select | NP_055199.1:n.1195+164dup |