HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29227068del , CM000664.2:g.29227068del | GRCh38 |
NC_000002.11:g.29449934del , CM000664.1:g.29449934del | GRCh37 |
NC_000002.10:g.29303438del | NCBI36 |
NG_009445.1:g.699500del , LRG_488:g.699500del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389048.8:c.2922del MANE Select | ENSP00000373700.3:p.Gly975AlafsTer5 | |
ENST00000431873.6:c.88del | ||
ENST00000389048.7:c.2922del | ENSP00000373700.3:p.Gly975AlafsTer5 | |
ENST00000618119.4:c.1791del | ENSP00000482733.1:p.Gly598AlafsTer5 | |
NM_004304.4:c.2922del | NP_004295.2:p.Gly975AlafsTer5 | |
XM_024452778.1:c.75del | XP_024308546.1:p.Gly26AlafsTer5 | |
XR_001738688.2:n.3778del | ||
NM_004304.5:c.2922del MANE Select | NP_004295.2:p.Gly975AlafsTer5 |