HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724379_19724400del , CM000684.2:g.19724379_19724400del | GRCh38 |
NC_000022.10:g.19711902_19711923del , CM000684.1:g.19711902_19711923del | GRCh37 |
NC_000022.9:g.18091902_18091923del | NCBI36 |
NG_007974.1:g.5837_5858del , LRG_478:g.5837_5858del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.536_557del (GP1BB) MANE Select | ENSP00000383382.2:p.Arg179ProfsTer7 | |
ENST00000366425.3:c.536_557del (GP1BB) | ENSP00000383382.2:p.Arg179ProfsTer7 | |
ENST00000431044.5:c.*1621_*1642del (SEPTIN5) | ENSP00000399685.1:n.*1621_*1642del | |
NM_000407.4:c.536_557del , LRG_478t1:c.536_557del (GP1BB) | NP_000398.1:p.Arg179ProfsTer7 | |
NR_037611.1:n.4276_4297del | ||
NR_037612.1:n.2780_2801del | ||
NM_000407.5:c.536_557del (GP1BB) MANE Select | NP_000398.1:p.Arg179ProfsTer7 |