Linked Data
dbSNP Id:
rs1441842098
gnomAD v2:
16-51170025-TG-T
gnomAD v3:
16-51136114-TG-T
gnomAD v4:
16-51136114-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.51136115del , CM000678.2:g.51136115del | GRCh38 |
| NC_000016.9:g.51170026del , CM000678.1:g.51170026del | GRCh37 |
| NC_000016.8:g.49727527del | NCBI36 |
| NG_007990.1:g.20158del , LRG_674:g.20158del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440970.6:c.*997del | ENSP00000407914.2:n.*997del | |
| ENST00000685868.1:c.*997del | ENSP00000509873.1:n.*997del | |
| ENST00000251020.9:c.*997del MANE Select | ENSP00000251020.4:n.*997del | |
| ENST00000251020.8:c.*997del | ENSP00000251020.4:n.*997del | |
| ENST00000440970.5:c.*997del | ENSP00000407914.1:n.*997del | |
| NM_001127892.1:c.*997del | NP_001121364.1:n.*997del | |
| NM_002968.2:c.*997del , LRG_674t1:c.*997del | NP_002959.2:n.*997del | |
| XM_006721241.2:c.*997del | XP_006721304.1:n.*997del | |
| XM_011523254.1:c.*997del | XP_011521556.1:n.*997del | |
| XM_011523255.1:c.*997del | XP_011521557.1:n.*997del | |
| NM_002968.3:c.*997del MANE Select | NP_002959.2:n.*997del | |
| NM_001127892.2:c.*997del | NP_001121364.1:n.*997del |