Linked Data
dbSNP Id:
rs752708373
ExAC:
1:1471080 TCTC / T
gnomAD v2:
1-1471080-TCTC-T
gnomAD v3:
1-1535700-TCTC-T
gnomAD v4:
1-1535700-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535703_1535705del , CM000663.2:g.1535703_1535705del | GRCh38 |
| NC_000001.10:g.1471083_1471085del , CM000663.1:g.1471083_1471085del | GRCh37 |
| NC_000001.9:g.1460946_1460948del | NCBI36 |
| NG_041807.1:g.9658_9660del | |
| NG_053035.1:g.28561_28563del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.259_261del MANE Select | ENSP00000368007.4:p.Glu87del | |
| ENST00000378733.8:c.259_261del | ENSP00000368007.4:p.Glu87del | |
| ENST00000425828.1:c.259_261del | ENSP00000400311.1:p.Glu87del | |
| NM_001114748.1:c.259_261del | NP_001108220.1:p.Glu87del | |
| NM_001114748.2:c.259_261del MANE Select | NP_001108220.1:p.Glu87del |