HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724412_19724425del , CM000684.2:g.19724412_19724425del | GRCh38 |
NC_000022.10:g.19711935_19711948del , CM000684.1:g.19711935_19711948del | GRCh37 |
NC_000022.9:g.18091935_18091948del | NCBI36 |
NG_007974.1:g.5870_5883del , LRG_478:g.5870_5883del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.569_582del (GP1BB) MANE Select | ENSP00000383382.2:p.Leu190ProfsTer? | |
ENST00000366425.3:c.569_582del (GP1BB) | ENSP00000383382.2:p.Leu190ProfsTer? | |
ENST00000431044.5:c.*1654_*1667del (SEPTIN5) | ENSP00000399685.1:n.*1654_*1667del | |
NM_000407.4:c.569_582del , LRG_478t1:c.569_582del (GP1BB) | NP_000398.1:p.Leu190ProfsTer? | |
NR_037611.1:n.4309_4322del | ||
NR_037612.1:n.2813_2826del | ||
NM_000407.5:c.569_582del (GP1BB) MANE Select | NP_000398.1:p.Leu190ProfsTer? |