HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114429del , CM000667.2:g.140114429del | GRCh38 |
NC_000005.9:g.139494014del , CM000667.1:g.139494014del | GRCh37 |
NC_000005.8:g.139474198del | NCBI36 |
NG_041813.1:g.5307del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000331327.5:c.248del MANE Select | ENSP00000332706.3:p.Gly83AlafsTer4 | |
ENST00000505703.2:c.248del | ENSP00000498560.1:p.Gly83AlafsTer4 | |
ENST00000651386.1:c.248del | ENSP00000499133.1:p.Gly83AlafsTer4 | |
ENST00000331327.4:c.248del | ENSP00000332706.3:p.Gly83AlafsTer4 | |
NM_005859.4:c.248del | NP_005850.1:p.Gly83AlafsTer4 | |
NM_005859.5:c.248del MANE Select | NP_005850.1:p.Gly83AlafsTer4 |