Linked Data
ClinVar Variation Id:
591724
ClinVar RCV Id:
RCV000722905
dbSNP Id:
rs1470277126
gnomAD v3:
11-116836076-T-TGGGCGCGCGCGC
gnomAD v4:
11-116836076-T-TGGGCGCGCGCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116836079_116836090dup , CM000673.2:g.116836079_116836090dup | GRCh38 |
| NC_000011.9:g.116706795_116706806dup , CM000673.1:g.116706795_116706806dup | GRCh37 |
| NC_000011.8:g.116212005_116212016dup | NCBI36 |
| NG_012021.1:g.6535_6546dup , LRG_767:g.6535_6546dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236850.5:c.524_535dup MANE Select | ENSP00000236850.3:p.Ala178_His179insArgAlaArgAla | |
| ENST00000236850.4:c.524_535dup | ENSP00000236850.3:p.Ala178_His179insArgAlaArgAla | |
| ENST00000359492.6:c.524_535dup | ENSP00000352471.2:p.Ala178_His179insArgAlaArgAla | |
| ENST00000375320.5:c.524_535dup | ENSP00000364469.1:p.Ala178_His179insArgAlaArgAla | |
| ENST00000375323.5:c.524_535dup | ENSP00000364472.1:p.Ala178_His179insArgAlaArgAla | |
| ENST00000375329.6:c.458_469dup | ENSP00000364478.2:p.Ala156_His157insArgAlaArgAla | |
| NM_000039.1:c.524_535dup , LRG_767t1:c.524_535dup | NP_000030.1:p.Ala178_His179insArgAlaArgAla | |
| XM_005271539.2:c.524_535dup | XP_005271596.1:p.Ala178_His179insArgAlaArgAla | |
| XM_005271540.1:c.524_535dup | XP_005271597.1:p.Ala178_His179insArgAlaArgAla | |
| NM_000039.2:c.524_535dup | NP_000030.1:p.Ala178_His179insArgAlaArgAla | |
| NM_001318017.1:c.524_535dup | NP_001304946.1:p.Ala178_His179insArgAlaArgAla | |
| NM_001318018.1:c.524_535dup | NP_001304947.1:p.Ala178_His179insArgAlaArgAla | |
| NM_001318021.1:c.197_208dup | NP_001304950.1:p.Ala69_His70insArgAlaArgAla | |
| NM_001318017.2:c.524_535dup | NP_001304946.1:p.Ala178_His179insArgAlaArgAla | |
| NM_001318018.2:c.524_535dup | NP_001304947.1:p.Ala178_His179insArgAlaArgAla | |
| NM_000039.3:c.524_535dup MANE Select | NP_000030.1:p.Ala178_His179insArgAlaArgAla |