HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215675595_215675596del , CM000663.2:g.215675595_215675596del | GRCh38 |
NC_000001.10:g.215848937_215848938del , CM000663.1:g.215848937_215848938del | GRCh37 |
NC_000001.9:g.213915560_213915561del | NCBI36 |
NG_009497.1:g.752801_752802del | |
NG_009497.2:g.752853_752854del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.12315_12316del MANE Select | ENSP00000305941.3:p.Asp4105GlufsTer? | |
ENST00000674083.1:c.12315_12316del | ENSP00000501296.1:p.Asp4105GlufsTer? | |
ENST00000307340.7:c.12315_12316del | ENSP00000305941.3:p.Asp4105GlufsTer? | |
NM_206933.2:c.12315_12316del | NP_996816.2:p.Asp4105GlufsTer? | |
NM_206933.3:c.12315_12316del | NP_996816.2:p.Asp4105GlufsTer? | |
NM_206933.4:c.12315_12316del MANE Select | NP_996816.3:p.Asp4105GlufsTer? |