HGVS | Genome Assembly |
---|---|
NC_000014.9:g.28767488_28767508del , CM000676.2:g.28767488_28767508del | GRCh38 |
NC_000014.8:g.29236694_29236714del , CM000676.1:g.29236694_29236714del | GRCh37 |
NC_000014.7:g.28306445_28306465del | NCBI36 |
NG_009367.1:g.5408_5428del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706482.1:c.209_229del | ENSP00000516406.1:p.Gln70_Pro76del | |
ENST00000313071.7:c.209_229del MANE Select | ENSP00000339004.3:p.Gln70_Pro76del | |
ENST00000313071.6:c.209_229del | ENSP00000339004.3:p.Gln70_Pro76del | |
NM_005249.4:c.209_229del | NP_005240.3:p.Gln70_Pro76del | |
NM_005249.5:c.209_229del MANE Select | NP_005240.3:p.Gln70_Pro76del |