Linked Data
gnomAD v4:
5-178994915-CGGCTCCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994921_178994928del , CM000667.2:g.178994921_178994928del | GRCh38 |
| NC_000005.9:g.178421922_178421929del , CM000667.1:g.178421922_178421929del | GRCh37 |
| NC_000005.8:g.178354528_178354535del | NCBI36 |
| NG_008105.1:g.5201_5208del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.22_29del MANE Select | ENSP00000430767.1:p.Arg8AlafsTer? | |
| ENST00000650031.1:c.22_29del | ENSP00000497110.1:p.Arg8AlafsTer? | |
| ENST00000231188.9:c.22_29del | ENSP00000231188.5:p.Arg8AlafsTer? | |
| ENST00000517717.1:c.22_29del | ENSP00000430767.1:p.Arg8AlafsTer? | |
| NM_000843.3:c.22_29del | NP_000834.2:p.Arg8AlafsTer? | |
| NM_000843.4:c.22_29del MANE Select | NP_000834.2:p.Arg8AlafsTer? |