HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8075380_8075381delinsCA , CM000679.2:g.8075380_8075381delinsCA | GRCh38 |
NC_000017.10:g.7978698_7978699delinsCA , CM000679.1:g.7978698_7978699delinsCA | GRCh37 |
NC_000017.9:g.7919423_7919424delinsCA | NCBI36 |
NG_007099.1:g.17323_17324delinsTG | |
NG_007099.2:g.17336_17337delinsTG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.1654+214_1654+215delinsTG MANE Select | ENSP00000497784.1:n.1654+214_1654+215delinsTG | |
ENST00000649809.1:c.718+214_718+215delinsTG | ENSP00000496845.1:n.718+214_718+215delinsTG | |
ENST00000319144.4:c.1654+214_1654+215delinsTG | ENSP00000315167.4:n.1654+214_1654+215delinsTG | |
ENST00000577351.5:n.479+794_479+795delinsTG | ||
NM_001139.2:c.1654+214_1654+215delinsTG | NP_001130.1:n.1654+214_1654+215delinsTG | |
NM_001139.3:c.1654+214_1654+215delinsTG MANE Select | NP_001130.1:n.1654+214_1654+215delinsTG |