HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12833742del , CM000686.2:g.12833742del | GRCh38 |
NC_000024.9:g.14945668del , CM000686.1:g.14945668del | GRCh37 |
NC_000024.8:g.13455062del | NCBI36 |
NG_008311.1:g.137509del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.5076del | ENSP00000498372.1:p.Phe1692LeufsTer8 | |
ENST00000338981.7:c.5076del MANE Select | ENSP00000342812.3:p.Phe1692LeufsTer8 | |
ENST00000426564.6:n.5088del | ||
NM_004654.3:c.5076del | NP_004645.2:p.Phe1692LeufsTer8 | |
XM_011531469.1:c.5076del | XP_011529771.1:p.Phe1692LeufsTer8 | |
XM_011531470.1:c.4842del | XP_011529772.1:p.Phe1614LeufsTer8 | |
XM_017030078.2:c.5091del | XP_016885567.1:p.Phe1697LeufsTer8 | |
NM_004654.4:c.5076del MANE Select | NP_004645.2:p.Phe1692LeufsTer8 |