Linked Data
dbSNP Id:
rs1306316116
gnomAD v2:
5-178570852-TCTTTC-T
gnomAD v3:
5-179143851-TCTTTC-T
gnomAD v4:
5-179143851-TCTTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179143856_179143860del , CM000667.2:g.179143856_179143860del | GRCh38 |
| NC_000005.9:g.178570857_178570861del , CM000667.1:g.178570857_178570861del | GRCh37 |
| NC_000005.8:g.178503463_178503467del | NCBI36 |
| NG_023212.2:g.206473_206477del | |
| NG_023212.3:g.206473_206477del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698889.1:c.1630-3821_1630-3817del | ENSP00000514008.1:n.1630-3821_1630-3817de... | |
| ENST00000251582.12:c.1630-3821_1630-3817del MANE Select | ENSP00000251582.7:n.1630-3821_1630-3817de... | |
| ENST00000518335.3:c.1630-3821_1630-3817del | ENSP00000489888.2:n.1630-3821_1630-3817de... | |
| ENST00000251582.11:c.1630-3821_1630-3817del | ENSP00000251582.7:n.1630-3821_1630-3817de... | |
| NM_014244.4:c.1630-3821_1630-3817del | NP_055059.2:n.1630-3821_1630-3817del | |
| NM_014244.5:c.1630-3821_1630-3817del MANE Select | NP_055059.2:n.1630-3821_1630-3817del |