HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21600249del , CM000669.2:g.21600249del | GRCh38 |
NC_000007.13:g.21639867del , CM000669.1:g.21639867del | GRCh37 |
NC_000007.12:g.21606392del | NCBI36 |
NG_012886.2:g.62035del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.3000+130del MANE Select | ENSP00000475939.1:n.3000+130del | |
ENST00000328843.10:c.3000+130del | ENSP00000330671.7:n.3000+130del | |
ENST00000409508.7:c.3000+130del | ENSP00000475939.1:n.3000+130del | |
ENST00000620169.4:c.3000+130del | ENSP00000481693.1:n.3000+130del | |
NM_001277115.1:c.3000+130del | NP_001264044.1:n.3000+130del | |
NM_001277115.2:c.3000+130del MANE Select | NP_001264044.1:n.3000+130del |