HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49451603_49451604del , CM000668.2:g.49451603_49451604del | GRCh38 |
NC_000006.11:g.49419316_49419317del , CM000668.1:g.49419316_49419317del | GRCh37 |
NC_000006.10:g.49527275_49527276del | NCBI36 |
NG_007100.1:g.16538_16539del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.1196_1197del MANE Select | ENSP00000274813.3:p.Val399GlufsTer24 | |
ENST00000274813.3:c.1196_1197del | ENSP00000274813.3:p.Val399GlufsTer24 | |
NM_000255.3:c.1196_1197del | NP_000246.2:p.Val399GlufsTer24 | |
XM_005249143.2:c.1196_1197del | XP_005249200.1:p.Val399GlufsTer24 | |
XM_005249143.3:c.1196_1197del | XP_005249200.1:p.Val399GlufsTer24 | |
NM_000255.4:c.1196_1197del MANE Select | NP_000246.2:p.Val399GlufsTer24 |