HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724470_19724471del , CM000684.2:g.19724470_19724471del | GRCh38 |
NC_000022.10:g.19711993_19711994del , CM000684.1:g.19711993_19711994del | GRCh37 |
NC_000022.9:g.18091993_18091994del | NCBI36 |
NG_007974.1:g.5928_5929del , LRG_478:g.5928_5929del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.*6_*7del (GP1BB) MANE Select | ENSP00000383382.2:n.*6_*7del | |
ENST00000366425.3:c.*6_*7del (GP1BB) | ENSP00000383382.2:n.*6_*7del | |
ENST00000431044.5:c.*1712_*1713del (SEPTIN5) | ENSP00000399685.1:n.*1712_*1713del | |
NM_000407.4:c.*6_*7del , LRG_478t1:c.*6_*7del (GP1BB) | NP_000398.1:n.*6_*7del | |
NR_037611.1:n.4367_4368del | ||
NR_037612.1:n.2871_2872del | ||
NM_000407.5:c.*6_*7del (GP1BB) MANE Select | NP_000398.1:n.*6_*7del |