HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724452del , CM000684.2:g.19724452del | GRCh38 |
NC_000022.10:g.19711975del , CM000684.1:g.19711975del | GRCh37 |
NC_000022.9:g.18091975del | NCBI36 |
NG_007974.1:g.5910del , LRG_478:g.5910del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.609del (GP1BB) MANE Select | ENSP00000383382.2:p.Asp204ThrfsTer11 | |
ENST00000366425.3:c.609del (GP1BB) | ENSP00000383382.2:p.Asp204ThrfsTer11 | |
ENST00000431044.5:c.*1694del (SEPTIN5) | ENSP00000399685.1:n.*1694del | |
NM_000407.4:c.609del , LRG_478t1:c.609del (GP1BB) | NP_000398.1:p.Asp204ThrfsTer11 | |
NR_037611.1:n.4349del | ||
NR_037612.1:n.2853del | ||
NM_000407.5:c.609del (GP1BB) MANE Select | NP_000398.1:p.Asp204ThrfsTer11 |