HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724389_19724394del , CM000684.2:g.19724389_19724394del | GRCh38 |
NC_000022.10:g.19711912_19711917del , CM000684.1:g.19711912_19711917del | GRCh37 |
NC_000022.9:g.18091912_18091917del | NCBI36 |
NG_007974.1:g.5847_5852del , LRG_478:g.5847_5852del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.546_551del (GP1BB) MANE Select | ENSP00000383382.2:p.Arg183_Ala184del | |
ENST00000366425.3:c.546_551del (GP1BB) | ENSP00000383382.2:p.Arg183_Ala184del | |
ENST00000431044.5:c.*1631_*1636del (SEPTIN5) | ENSP00000399685.1:n.*1631_*1636del | |
NM_000407.4:c.546_551del , LRG_478t1:c.546_551del (GP1BB) | NP_000398.1:p.Arg183_Ala184del | |
NR_037611.1:n.4286_4291del | ||
NR_037612.1:n.2790_2795del | ||
NM_000407.5:c.546_551del (GP1BB) MANE Select | NP_000398.1:p.Arg183_Ala184del |