HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32220612_32220613del , CM000668.2:g.32220612_32220613del | GRCh38 |
NC_000006.11:g.32188389_32188390del , CM000668.1:g.32188389_32188390del | GRCh37 |
NC_000006.10:g.32296367_32296368del | NCBI36 |
NG_028190.1:g.8458_8459del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375023.3:c.954_955del MANE Select | ENSP00000364163.3:p.Cys318Ter | |
ENST00000473562.1:n.1083_1084del | ||
NM_004557.3:c.954_955del | NP_004548.3:p.Cys318Ter | |
NR_134949.1:n.1093_1094del | ||
NR_134950.1:n.1093_1094del | ||
NM_004557.4:c.954_955del MANE Select | NP_004548.3:p.Cys318Ter | |
NR_134949.2:n.1093_1094del | ||
NR_134950.2:n.1093_1094del |