HGVS | Genome Assembly |
---|---|
NC_000024.10:g.12833855del , CM000686.2:g.12833855del | GRCh38 |
NC_000024.9:g.14945781del , CM000686.1:g.14945781del | GRCh37 |
NC_000024.8:g.13455175del | NCBI36 |
NG_008311.1:g.137622del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651177.1:c.5189del | ENSP00000498372.1:p.Pro1730HisfsTer13 | |
ENST00000338981.7:c.5189del MANE Select | ENSP00000342812.3:p.Pro1730HisfsTer13 | |
ENST00000426564.6:n.5201del | ||
NM_004654.3:c.5189del | NP_004645.2:p.Pro1730HisfsTer13 | |
XM_011531469.1:c.5189del | XP_011529771.1:p.Pro1730HisfsTer13 | |
XM_011531470.1:c.4955del | XP_011529772.1:p.Pro1652HisfsTer13 | |
XM_017030078.2:c.5204del | XP_016885567.1:p.Pro1735HisfsTer13 | |
NM_004654.4:c.5189del MANE Select | NP_004645.2:p.Pro1730HisfsTer13 |