HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8075448_8075449delinsTG , CM000679.2:g.8075448_8075449delinsTG | GRCh38 |
NC_000017.10:g.7978766_7978767delinsTG , CM000679.1:g.7978766_7978767delinsTG | GRCh37 |
NC_000017.9:g.7919491_7919492delinsTG | NCBI36 |
NG_007099.1:g.17255_17256delinsCA | |
NG_007099.2:g.17268_17269delinsCA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.1654+146_1654+147delinsCA MANE Select | ENSP00000497784.1:n.1654+146_1654+147delinsCA | |
ENST00000649809.1:c.718+146_718+147delinsCA | ENSP00000496845.1:n.718+146_718+147delinsCA | |
ENST00000319144.4:c.1654+146_1654+147delinsCA | ENSP00000315167.4:n.1654+146_1654+147delinsCA | |
ENST00000577351.5:n.479+726_479+727delinsCA | ||
NM_001139.2:c.1654+146_1654+147delinsCA | NP_001130.1:n.1654+146_1654+147delinsCA | |
NM_001139.3:c.1654+146_1654+147delinsCA MANE Select | NP_001130.1:n.1654+146_1654+147delinsCA |