HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270473_31270474del , CM000668.2:g.31270473_31270474del | GRCh38 |
NC_000006.11:g.31238250_31238251del , CM000668.1:g.31238250_31238251del | GRCh37 |
NC_000006.10:g.31346229_31346230del | NCBI36 |
NG_029422.2:g.6662_6663del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.635_636del MANE Select | ENSP00000365402.5:p.His212ArgfsTer8 | |
ENST00000376228.9:c.635_636del | ENSP00000365402.5:p.His212ArgfsTer8 | |
ENST00000376237.8:c.*222_*223del | ENSP00000365412.4:n.*222_*223del | |
ENST00000383329.7:c.635_636del | ENSP00000372819.3:p.His212ArgfsTer8 | |
ENST00000415537.1:c.633_634del | ||
ENST00000487245.5:n.994_995del | ||
ENST00000495835.1:n.824_825del | ||
NM_002117.5:c.635_636del | NP_002108.4:p.His212ArgfsTer8 | |
NM_002117.6:c.635_636del MANE Select | NP_002108.4:p.His212ArgfsTer8 |