HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724396_19724401dup , CM000684.2:g.19724396_19724401dup | GRCh38 |
NC_000022.10:g.19711919_19711924dup , CM000684.1:g.19711919_19711924dup | GRCh37 |
NC_000022.9:g.18091919_18091924dup | NCBI36 |
NG_007974.1:g.5854_5859dup , LRG_478:g.5854_5859dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.553_558dup (GP1BB) MANE Select | ENSP00000383382.2:p.Ala186_Ala187insArgAla | |
ENST00000366425.3:c.553_558dup (GP1BB) | ENSP00000383382.2:p.Ala186_Ala187insArgAla | |
ENST00000431044.5:c.*1638_*1643dup (SEPTIN5) | ENSP00000399685.1:n.*1638_*1643dup | |
NM_000407.4:c.553_558dup , LRG_478t1:c.553_558dup (GP1BB) | NP_000398.1:p.Ala186_Ala187insArgAla | |
NR_037611.1:n.4293_4298dup | ||
NR_037612.1:n.2797_2802dup | ||
NM_000407.5:c.553_558dup (GP1BB) MANE Select | NP_000398.1:p.Ala186_Ala187insArgAla |