HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724423_19724426delinsGACC , CM000684.2:g.19724423_19724426delinsGACC | GRCh38 |
NC_000022.10:g.19711946_19711949delinsGACC , CM000684.1:g.19711946_19711949delinsGACC | GRCh37 |
NC_000022.9:g.18091946_18091949delinsGACC | NCBI36 |
NG_007974.1:g.5881_5884delinsGACC , LRG_478:g.5881_5884delinsGACC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.580_583delinsGACC (GP1BB) MANE Select | ENSP00000383382.2:p.Asp194= | |
ENST00000366425.3:c.580_583delinsGACC (GP1BB) | ENSP00000383382.2:p.Asp194= | |
ENST00000431044.5:c.*1665_*1668delinsGACC (SEPTIN5) | ENSP00000399685.1:n.*1665_*1668delinsGACC | |
NM_000407.4:c.580_583delinsGACC , LRG_478t1:c.580_583delinsGACC (GP1BB) | NP_000398.1:p.Asp194= | |
NR_037611.1:n.4320_4323delinsGACC | ||
NR_037612.1:n.2824_2827delinsGACC | ||
NM_000407.5:c.580_583delinsGACC (GP1BB) MANE Select | NP_000398.1:p.Asp194= |