Linked Data
gnomAD v4:
5-148827509-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827513dup , CM000667.2:g.148827513dup | GRCh38 |
| NC_000005.9:g.148207076dup , CM000667.1:g.148207076dup | GRCh37 |
| NC_000005.8:g.148187269dup | NCBI36 |
| NG_016421.1:g.5921dup | |
| NG_016421.2:g.5921dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.682dup MANE Select | ENSP00000305372.4:p.Arg228LysfsTer7 | |
| ENST00000305988.5:c.682dup | ENSP00000305372.4:p.Arg228LysfsTer7 | |
| NM_000024.5:c.682dup | NP_000015.1:p.Arg228LysfsTer7 | |
| NM_000024.6:c.682dup MANE Select | NP_000015.2:p.Arg228LysfsTer7 |