Linked Data
ClinVar Variation Id:
503895
dbSNP Id:
rs755595256
ExAC:
8:37630320 GCAGA / G
gnomAD v2:
8-37630320-GCAGA-G
gnomAD v3:
8-37772802-GCAGA-G
gnomAD v4:
8-37772802-GCAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37772805_37772808del , CM000670.2:g.37772805_37772808del | GRCh38 |
| NC_000008.10:g.37630323_37630326del , CM000670.1:g.37630323_37630326del | GRCh37 |
| NC_000008.9:g.37749481_37749484del | NCBI36 |
| NG_053030.1:g.16053_16056del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328195.8:c.370_373del MANE Select | ENSP00000333551.3:p.Asp124LysfsTer2 | |
| ENST00000328195.7:c.370_373del | ENSP00000333551.3:p.Asp124LysfsTer2 | |
| ENST00000518036.5:c.*222_*225del | ENSP00000428005.1:n.*222_*225del | |
| ENST00000521631.1:n.53_56del | ||
| ENST00000523187.5:c.214_217del | ENSP00000427886.1:p.Asp72LysfsTer2 | |
| ENST00000523358.5:c.370_373del | ENSP00000427778.1:p.Asp124LysfsTer2 | |
| ENST00000523521.1:c.127_130del | ENSP00000429425.1:p.Asp43LysfsTer2 | |
| NM_007198.3:c.370_373del | NP_009129.1:p.Asp124LysfsTer2 | |
| NM_001349346.1:c.370_373del | NP_001336275.1:p.Asp124LysfsTer2 | |
| NM_001349347.1:c.364_367del | NP_001336276.1:p.Asp122LysfsTer2 | |
| NM_001349348.1:c.214_217del | NP_001336277.1:p.Asp72LysfsTer2 | |
| NM_007198.4:c.370_373del MANE Select | NP_009129.1:p.Asp124LysfsTer2 | |
| NM_001349346.2:c.370_373del | NP_001336275.1:p.Asp124LysfsTer2 | |
| NM_001349347.2:c.364_367del | NP_001336276.1:p.Asp122LysfsTer2 | |
| NM_001349348.2:c.214_217del | NP_001336277.1:p.Asp72LysfsTer2 |