Linked Data
dbSNP Id:
rs759058066
ExAC:
11:121367550 TAAC / T
gnomAD v2:
11-121367550-TAAC-T
gnomAD v3:
11-121496841-TAAC-T
gnomAD v4:
11-121496841-TAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121496845_121496847del , CM000673.2:g.121496845_121496847del | GRCh38 |
| NC_000011.9:g.121367554_121367556del , CM000673.1:g.121367554_121367556del | GRCh37 |
| NC_000011.8:g.120872764_120872766del | NCBI36 |
| NG_023313.1:g.49594_49596del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260197.12:c.759-24_759-22del MANE Select | ENSP00000260197.6:n.759-24_759-22del | |
| ENST00000260197.11:c.759-24_759-22del | ENSP00000260197.6:n.759-24_759-22del | |
| ENST00000532451.1:n.711-24_711-22del | ||
| NM_003105.5:c.759-24_759-22del | NP_003096.1:n.759-24_759-22del | |
| XM_011542963.1:c.759-24_759-22del | XP_011541265.1:n.759-24_759-22del | |
| XM_011542964.1:c.759-24_759-22del | XP_011541266.1:n.759-24_759-22del | |
| XM_011542963.3:c.759-24_759-22del | XP_011541265.1:n.759-24_759-22del | |
| XM_017018169.2:c.447-24_447-22del | XP_016873658.1:n.447-24_447-22del | |
| XM_017018170.2:c.234-24_234-22del | XP_016873659.1:n.234-24_234-22del | |
| XM_017018171.1:c.759-24_759-22del | XP_016873660.1:n.759-24_759-22del | |
| NM_003105.6:c.759-24_759-22del MANE Select | NP_003096.2:n.759-24_759-22del |