Linked Data
dbSNP Id:
rs749973680
ExAC:
20:45353842 TG / T
gnomAD v2:
20-45353842-TG-T
gnomAD v4:
20-46725203-TG-T
COSMIC:
COSM390996
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46725208del , CM000682.2:g.46725208del | GRCh38 |
| NC_000020.10:g.45353847del , CM000682.1:g.45353847del | GRCh37 |
| NC_000020.9:g.44787254del | NCBI36 |
| NG_016284.1:g.20569del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.172del MANE Select | ENSP00000352216.2:p.Ala58LeufsTer? | |
| ENST00000359271.3:c.172del | ENSP00000352216.2:p.Ala58LeufsTer? | |
| ENST00000611837.1:n.324del | ||
| NM_030777.3:c.172del | NP_110404.1:p.Ala58LeufsTer? | |
| XM_011529060.1:c.235del | XP_011527362.1:p.Ala79LeufsTer? | |
| XM_011529061.1:c.181del | XP_011527363.1:p.Ala61LeufsTer? | |
| XM_011529062.1:c.235del | XP_011527364.1:p.Ala79LeufsTer? | |
| XM_011529063.1:c.235del | XP_011527365.1:p.Ala79LeufsTer? | |
| XM_011529064.1:c.235del | XP_011527366.1:p.Ala79LeufsTer? | |
| XM_011529065.1:c.235del | XP_011527367.1:p.Ala79LeufsTer? | |
| XR_936641.1:n.371del | ||
| XM_011529060.2:c.235del | XP_011527362.1:p.Ala79LeufsTer? | |
| XM_011529061.2:c.181del | XP_011527363.1:p.Ala61LeufsTer? | |
| XM_011529062.2:c.235del | XP_011527364.1:p.Ala79LeufsTer? | |
| XM_011529063.2:c.235del | XP_011527365.1:p.Ala79LeufsTer? | |
| XM_011529064.2:c.235del | XP_011527366.1:p.Ala79LeufsTer? | |
| XM_011529065.2:c.235del | XP_011527367.1:p.Ala79LeufsTer? | |
| XM_017028087.2:c.172del | XP_016883576.1:p.Ala58LeufsTer? | |
| XR_936641.2:n.358del | ||
| NM_030777.4:c.172del MANE Select | NP_110404.1:p.Ala58LeufsTer? |