HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215675212_215675219del , CM000663.2:g.215675212_215675219del | GRCh38 |
NC_000001.10:g.215848554_215848561del , CM000663.1:g.215848554_215848561del | GRCh37 |
NC_000001.9:g.213915177_213915184del | NCBI36 |
NG_009497.1:g.753179_753186del | |
NG_009497.2:g.753231_753238del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.12693_12700del MANE Select | ENSP00000305941.3:p.Gln4231HisfsTer4 | |
ENST00000674083.1:c.12693_12700del | ENSP00000501296.1:p.Gln4231HisfsTer4 | |
ENST00000307340.7:c.12693_12700del | ENSP00000305941.3:p.Gln4231HisfsTer4 | |
NM_206933.2:c.12693_12700del | NP_996816.2:p.Gln4231HisfsTer4 | |
NM_206933.3:c.12693_12700del | NP_996816.2:p.Gln4231HisfsTer4 | |
NM_206933.4:c.12693_12700del MANE Select | NP_996816.3:p.Gln4231HisfsTer4 |