HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215675168_215675172del , CM000663.2:g.215675168_215675172del | GRCh38 |
NC_000001.10:g.215848510_215848514del , CM000663.1:g.215848510_215848514del | GRCh37 |
NC_000001.9:g.213915133_213915137del | NCBI36 |
NG_009497.1:g.753225_753229del | |
NG_009497.2:g.753277_753281del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.12739_12743del MANE Select | ENSP00000305941.3:p.Gly4247TyrfsTer3 | |
ENST00000674083.1:c.12739_12743del | ENSP00000501296.1:p.Gly4247TyrfsTer3 | |
ENST00000307340.7:c.12739_12743del | ENSP00000305941.3:p.Gly4247TyrfsTer3 | |
NM_206933.2:c.12739_12743del | NP_996816.2:p.Gly4247TyrfsTer3 | |
NM_206933.3:c.12739_12743del | NP_996816.2:p.Gly4247TyrfsTer3 | |
NM_206933.4:c.12739_12743del MANE Select | NP_996816.3:p.Gly4247TyrfsTer3 |