HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120739720_120739721insAT , CM000674.2:g.120739720_120739721insAT | GRCh38 |
NC_000012.11:g.121177523_121177524insAT , CM000674.1:g.121177523_121177524insAT | GRCh37 |
NC_000012.10:g.119661906_119661907insAT | NCBI36 |
NG_007991.1:g.18953_18954insAT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.*272_*273insAT MANE Select | ENSP00000242592.4:n.*272_*273insAT | |
ENST00000242592.8:c.*272_*273insAT | ENSP00000242592.4:n.*272_*273insAT | |
NM_000017.3:c.*272_*273insAT | NP_000008.1:n.*272_*273insAT | |
NM_001302554.1:c.*272_*273insAT | NP_001289483.1:n.*272_*273insAT | |
NM_000017.4:c.*272_*273insAT MANE Select | NP_000008.1:n.*272_*273insAT | |
NM_001302554.2:c.*272_*273insAT | NP_001289483.1:n.*272_*273insAT |