Linked Data
ClinVar Variation Id:
2131688
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431319_68431340del , CM000663.2:g.68431319_68431340del | GRCh38 |
| NC_000001.10:g.68897002_68897023del , CM000663.1:g.68897002_68897023del | GRCh37 |
| NC_000001.9:g.68669590_68669611del | NCBI36 |
| NG_008472.1:g.23622_23643del | |
| NG_008472.2:g.23622_23643del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1282_1303del MANE Select | ENSP00000262340.5:p.Gly428MetfsTer5 | |
| ENST00000262340.5:c.1282_1303del | ENSP00000262340.5:p.Gly428MetfsTer5 | |
| NM_000329.2:c.1282_1303del | NP_000320.1:p.Gly428MetfsTer5 | |
| XM_017002027.1:c.1006_1027del | XP_016857516.1:p.Gly336MetfsTer5 | |
| NM_000329.3:c.1282_1303del MANE Select | NP_000320.1:p.Gly428MetfsTer5 |