HGVS | Genome Assembly |
---|---|
NC_000012.12:g.120738659del , CM000674.2:g.120738659del | GRCh38 |
NC_000012.11:g.121176462del , CM000674.1:g.121176462del | GRCh37 |
NC_000012.10:g.119660845del | NCBI36 |
NG_007991.1:g.17892del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242592.9:c.922del MANE Select | ENSP00000242592.4:p.Gln308ArgfsTer20 | |
ENST00000242592.8:c.922del | ENSP00000242592.4:p.Gln308ArgfsTer20 | |
ENST00000411593.2:c.910del | ENSP00000401045.2:p.Gln304ArgfsTer20 | |
NM_000017.3:c.922del | NP_000008.1:p.Gln308ArgfsTer20 | |
NM_001302554.1:c.910del | NP_001289483.1:p.Gln304ArgfsTer20 | |
NM_000017.4:c.922del MANE Select | NP_000008.1:p.Gln308ArgfsTer20 | |
NM_001302554.2:c.910del | NP_001289483.1:p.Gln304ArgfsTer20 |