HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32220522_32220525del , CM000668.2:g.32220522_32220525del | GRCh38 |
NC_000006.11:g.32188299_32188302del , CM000668.1:g.32188299_32188302del | GRCh37 |
NC_000006.10:g.32296277_32296280del | NCBI36 |
NG_028190.1:g.8543_8546del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375023.3:c.1039_1042del MANE Select | ENSP00000364163.3:p.Trp347AlafsTer? | |
ENST00000473562.1:n.1168_1171del | ||
NM_004557.3:c.1039_1042del | NP_004548.3:p.Trp347AlafsTer? | |
NR_134949.1:n.1178_1181del | ||
NR_134950.1:n.1178_1181del | ||
NM_004557.4:c.1039_1042del MANE Select | NP_004548.3:p.Trp347AlafsTer? | |
NR_134949.2:n.1178_1181del | ||
NR_134950.2:n.1178_1181del |