HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724466_19724468del , CM000684.2:g.19724466_19724468del | GRCh38 |
NC_000022.10:g.19711989_19711991del , CM000684.1:g.19711989_19711991del | GRCh37 |
NC_000022.9:g.18091989_18091991del | NCBI36 |
NG_007974.1:g.5924_5926del , LRG_478:g.5924_5926del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.*2_*4del (GP1BB) MANE Select | ENSP00000383382.2:n.*2_*4del | |
ENST00000366425.3:c.*2_*4del (GP1BB) | ENSP00000383382.2:n.*2_*4del | |
ENST00000431044.5:c.*1708_*1710del (SEPTIN5) | ENSP00000399685.1:n.*1708_*1710del | |
NM_000407.4:c.*2_*4del , LRG_478t1:c.*2_*4del (GP1BB) | NP_000398.1:n.*2_*4del | |
NR_037611.1:n.4363_4365del | ||
NR_037612.1:n.2867_2869del | ||
NM_000407.5:c.*2_*4del (GP1BB) MANE Select | NP_000398.1:n.*2_*4del |