HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49459055_49459057del , CM000668.2:g.49459055_49459057del | GRCh38 |
NC_000006.11:g.49426768_49426770del , CM000668.1:g.49426768_49426770del | GRCh37 |
NC_000006.10:g.49534727_49534729del | NCBI36 |
NG_007100.1:g.9084_9086del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274813.4:c.385+26_385+28del MANE Select | ENSP00000274813.3:n.385+26_385+28del | |
ENST00000274813.3:c.385+26_385+28del | ENSP00000274813.3:n.385+26_385+28del | |
NM_000255.3:c.385+26_385+28del | NP_000246.2:n.385+26_385+28del | |
XM_005249143.2:c.385+26_385+28del | XP_005249200.1:n.385+26_385+28del | |
XM_005249143.3:c.385+26_385+28del | XP_005249200.1:n.385+26_385+28del | |
NM_000255.4:c.385+26_385+28del MANE Select | NP_000246.2:n.385+26_385+28del |