Linked Data
ClinVar Variation Id:
977546
ClinVar RCV Id:
RCV001255250
dbSNP Id:
rs1703516483
gnomAD v4:
3-50345492-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345494del , CM000665.2:g.50345494del | GRCh38 |
| NC_000003.11:g.50382925del , CM000665.1:g.50382925del | GRCh37 |
| NC_000003.10:g.50357929del | NCBI36 |
| NG_023270.1:g.444del | |
| NG_042828.1:g.5254del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.87del MANE Select | ENSP00000231749.3:p.Glu30LysfsTer13 | |
| ENST00000231749.7:c.87del | ENSP00000231749.3:p.Glu30LysfsTer13 | |
| ENST00000360165.7:c.87del | ENSP00000353289.3:p.Glu30LysfsTer13 | |
| ENST00000431869.1:c.87del | ENSP00000391545.1:p.Glu30LysfsTer? | |
| ENST00000442887.1:c.-38+42del | ENSP00000393687.1:n.-38+42del | |
| ENST00000443080.5:c.87del | ENSP00000415661.1:p.Glu30LysfsTer? | |
| ENST00000468182.1:n.189del | ||
| NM_001308379.1:c.87del | NP_001295308.1:p.Glu30LysfsTer13 | |
| NM_015896.2:c.87del | NP_056980.2:p.Glu30LysfsTer13 | |
| NM_015896.3:c.87del | NP_056980.2:p.Glu30LysfsTer13 | |
| XM_005265216.2:c.-42del | XP_005265273.1:n.-42del | |
| XM_005265216.3:c.-42del | XP_005265273.1:n.-42del | |
| NM_015896.4:c.87del MANE Select | NP_056980.2:p.Glu30LysfsTer13 | |
| NM_001308379.2:c.87del | NP_001295308.1:p.Glu30LysfsTer13 |