HGVS | Genome Assembly |
---|---|
NC_000020.11:g.6770062_6770071dup , CM000682.2:g.6770062_6770071dup | GRCh38 |
NC_000020.10:g.6750709_6750718dup , CM000682.1:g.6750709_6750718dup | GRCh37 |
NC_000020.9:g.6698709_6698718dup | NCBI36 |
NG_023233.1:g.6965_6974dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378827.5:c.-7-58_-7-49dup MANE Select | ENSP00000368104.3:n.-7-58_-7-49dup | |
ENST00000378827.4:c.-7-58_-7-49dup | ENSP00000368104.3:n.-7-58_-7-49dup | |
NM_001200.2:c.-7-58_-7-49dup | NP_001191.1:n.-7-58_-7-49dup | |
XM_011529323.1:c.-123+1187_-123+1196dup | XP_011527625.1:n.-123+1187_-123+1196dup | |
NM_001200.3:c.-7-58_-7-49dup | NP_001191.1:n.-7-58_-7-49dup | |
NM_001200.4:c.-7-58_-7-49dup MANE Select | NP_001191.1:n.-7-58_-7-49dup |