Linked Data
ClinVar Variation Id:
2176196
ClinVar RCV Id:
RCV002602552
dbSNP Id:
rs1433104741
gnomAD v2:
1-145416418-GGT-G
gnomAD v4:
1-146018591-TCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.146018593_146018594del , CM000663.2:g.146018593_146018594del | GRCh38 |
| NC_000001.10:g.145416420_145416421del , CM000663.1:g.145416420_145416421del | GRCh37 |
| NC_000001.9:g.144127777_144127778del | NCBI36 |
| NG_011568.1:g.8230_8231del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336751.11:c.765_766del MANE Select | ENSP00000337014.5:p.Asp256ProfsTer13 | |
| ENST00000636675.1:c.87_88del | ENSP00000490072.1:p.Asp30ProfsTer13 | |
| ENST00000336751.10:c.765_766del | ENSP00000337014.5:p.Asp256ProfsTer13 | |
| ENST00000357836.5:c.426_427del | ENSP00000350495.5:p.Asp143ProfsTer13 | |
| ENST00000475797.1:c.87_88del | ENSP00000425716.1:p.Asp30ProfsTer13 | |
| ENST00000497365.5:c.87_88del | ENSP00000421820.1:p.Asp30ProfsTer13 | |
| ENST00000634927.1:c.*29_*30del | ENSP00000489347.1:n.*29_*30del | |
| NM_001316767.1:c.87_88del | NP_001303696.1:p.Asp30ProfsTer13 | |
| NM_145277.4:c.426_427del | NP_660320.3:p.Asp143ProfsTer13 | |
| NM_202004.3:c.87_88del | NP_973733.1:p.Asp30ProfsTer13 | |
| NM_213652.3:c.87_88del | NP_998817.1:p.Asp30ProfsTer13 | |
| NM_213653.3:c.765_766del | NP_998818.1:p.Asp256ProfsTer13 | |
| XM_005272932.1:c.765_766del | XP_005272989.1:p.Asp256ProfsTer13 | |
| NM_001316767.2:c.87_88del | NP_001303696.1:p.Asp30ProfsTer13 | |
| NM_145277.5:c.426_427del | NP_660320.3:p.Asp143ProfsTer13 | |
| NM_202004.4:c.87_88del | NP_973733.1:p.Asp30ProfsTer13 | |
| NM_213652.4:c.87_88del | NP_998817.1:p.Asp30ProfsTer13 | |
| NM_001379352.1:c.765_766del | NP_001366281.1:p.Asp256ProfsTer13 | |
| NM_213653.4:c.765_766del MANE Select | NP_998818.1:p.Asp256ProfsTer13 |