ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46890342del , CM000673.2:g.46890342del | GRCh38 |
| NC_000011.9:g.46911893del , CM000673.1:g.46911893del | GRCh37 |
| NC_000011.8:g.46868469del | NCBI36 |
| NG_021394.1:g.33281del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.1850del MANE Select | ENSP00000367888.1:p.Ala617ValfsTer? | |
| ENST00000378623.5:c.1850del | ENSP00000367888.1:p.Ala617ValfsTer? | |
| NM_002334.3:c.1850del | NP_002325.2:p.Ala617ValfsTer? | |
| XM_011520102.1:c.2063del | XP_011518404.1:p.Ala688ValfsTer? | |
| XM_011520103.1:c.1046del | XP_011518405.1:p.Ala349ValfsTer? | |
| XM_011520103.2:c.1046del | XP_011518405.1:p.Ala349ValfsTer? | |
| XM_017017734.1:c.1850del | XP_016873223.1:p.Ala617ValfsTer? | |
| NM_002334.4:c.1850del MANE Select | NP_002325.2:p.Ala617ValfsTer? |