HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49459057_49459061del , CM000668.2:g.49459057_49459061del | GRCh38 |
NC_000006.11:g.49426770_49426774del , CM000668.1:g.49426770_49426774del | GRCh37 |
NC_000006.10:g.49534729_49534733del | NCBI36 |
NG_007100.1:g.9081_9085del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.385+23_385+27del MANE Select | ENSP00000274813.3:n.385+23_385+27del | |
ENST00000274813.3:c.385+23_385+27del | ENSP00000274813.3:n.385+23_385+27del | |
NM_000255.3:c.385+23_385+27del | NP_000246.2:n.385+23_385+27del | |
XM_005249143.2:c.385+23_385+27del | XP_005249200.1:n.385+23_385+27del | |
XM_005249143.3:c.385+23_385+27del | XP_005249200.1:n.385+23_385+27del | |
NM_000255.4:c.385+23_385+27del MANE Select | NP_000246.2:n.385+23_385+27del |