Linked Data
dbSNP Id:
rs1396667236
gnomAD v2:
16-28856757-TCTC-T
gnomAD v3:
16-28845436-TCTC-T
gnomAD v4:
16-28845436-TCTC-T
COSMIC:
COSM295859
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845440_28845442del , CM000678.2:g.28845440_28845442del | GRCh38 |
| NC_000016.9:g.28856761_28856763del , CM000678.1:g.28856761_28856763del | GRCh37 |
| NC_000016.8:g.28764262_28764264del | NCBI36 |
| NG_008964.1:g.5970_5972del | |
| NG_029706.2:g.3841_3843del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.289_291del MANE Select | ENSP00000322439.3:p.Glu97del | |
| ENST00000313511.7:c.289_291del | ENSP00000322439.3:p.Glu97del | |
| ENST00000565012.1:c.248-384_248-382del | ENSP00000455007.1:n.248-384_248-382del | |
| NM_003321.4:c.289_291del | NP_003312.3:p.Glu97del | |
| XM_011545928.1:c.289_291del | XP_011544230.1:p.Glu97del | |
| NM_001365360.1:c.289_291del | NP_001352289.1:p.Glu97del | |
| NM_003321.5:c.289_291del MANE Select | NP_003312.3:p.Glu97del | |
| NM_001365360.2:c.289_291del | NP_001352289.1:p.Glu97del |