Linked Data
gnomAD v4:
5-148827533-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827536del , CM000667.2:g.148827536del | GRCh38 |
| NC_000005.9:g.148207099del , CM000667.1:g.148207099del | GRCh37 |
| NC_000005.8:g.148187292del | NCBI36 |
| NG_016421.1:g.5944del | |
| NG_016421.2:g.5944del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.705del MANE Select | ENSP00000305372.4:p.Lys235AsnfsTer? | |
| ENST00000305988.5:c.705del | ENSP00000305372.4:p.Lys235AsnfsTer? | |
| NM_000024.5:c.705del | NP_000015.1:p.Lys235AsnfsTer? | |
| NM_000024.6:c.705del MANE Select | NP_000015.2:p.Lys235AsnfsTer? |