HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724424_19724426del , CM000684.2:g.19724424_19724426del | GRCh38 |
NC_000022.10:g.19711947_19711949del , CM000684.1:g.19711947_19711949del | GRCh37 |
NC_000022.9:g.18091947_18091949del | NCBI36 |
NG_007974.1:g.5882_5884del , LRG_478:g.5882_5884del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.581_583del (GP1BB) MANE Select | ENSP00000383382.2:p.Asp194_Pro195delinsAla | |
ENST00000366425.3:c.581_583del (GP1BB) | ENSP00000383382.2:p.Asp194_Pro195delinsAla | |
ENST00000431044.5:c.*1666_*1668del (SEPTIN5) | ENSP00000399685.1:n.*1666_*1668del | |
NM_000407.4:c.581_583del , LRG_478t1:c.581_583del (GP1BB) | NP_000398.1:p.Asp194_Pro195delinsAla | |
NR_037611.1:n.4321_4323del | ||
NR_037612.1:n.2825_2827del | ||
NM_000407.5:c.581_583del (GP1BB) MANE Select | NP_000398.1:p.Asp194_Pro195delinsAla |