HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49459266_49459267del , CM000668.2:g.49459266_49459267del | GRCh38 |
NC_000006.11:g.49426979_49426980del , CM000668.1:g.49426979_49426980del | GRCh37 |
NC_000006.10:g.49534938_49534939del | NCBI36 |
NG_007100.1:g.8876_8877del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.203_204del MANE Select | ENSP00000274813.3:p.Ser68TyrfsTer15 | |
ENST00000274813.3:c.203_204del | ENSP00000274813.3:p.Ser68TyrfsTer15 | |
NM_000255.3:c.203_204del | NP_000246.2:p.Ser68TyrfsTer15 | |
XM_005249143.2:c.203_204del | XP_005249200.1:p.Ser68TyrfsTer15 | |
XM_005249143.3:c.203_204del | XP_005249200.1:p.Ser68TyrfsTer15 | |
NM_000255.4:c.203_204del MANE Select | NP_000246.2:p.Ser68TyrfsTer15 |