Linked Data
dbSNP Id:
rs34856803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420098del , CM000676.2:g.23420098del | GRCh38 |
| NC_000014.8:g.23889307del , CM000676.1:g.23889307del | GRCh37 |
| NC_000014.7:g.22959147del | NCBI36 |
| NG_007884.1:g.20565del , LRG_384:g.20565del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3474del MANE Select | ENSP00000347507.3:p.Val1159CysfsTer5 | |
| ENST00000355349.3:c.3474del | ENSP00000347507.3:p.Val1159CysfsTer5 | |
| NM_000257.3:c.3474del | NP_000248.2:p.Val1159CysfsTer5 | |
| XM_017021340.1:c.3474del | XP_016876829.1:p.Val1159CysfsTer5 | |
| NM_000257.4:c.3474del MANE Select | NP_000248.2:p.Val1159CysfsTer5 |