HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49459051_49459052delinsAT , CM000668.2:g.49459051_49459052delinsAT | GRCh38 |
NC_000006.11:g.49426764_49426765delinsAT , CM000668.1:g.49426764_49426765delinsAT | GRCh37 |
NC_000006.10:g.49534723_49534724delinsAT | NCBI36 |
NG_007100.1:g.9088_9089delinsAT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.385+30_385+31delinsAT MANE Select | ENSP00000274813.3:n.385+30_385+31delinsAT | |
ENST00000274813.3:c.385+30_385+31delinsAT | ENSP00000274813.3:n.385+30_385+31delinsAT | |
NM_000255.3:c.385+30_385+31delinsAT | NP_000246.2:n.385+30_385+31delinsAT | |
XM_005249143.2:c.385+30_385+31delinsAT | XP_005249200.1:n.385+30_385+31delinsAT | |
XM_005249143.3:c.385+30_385+31delinsAT | XP_005249200.1:n.385+30_385+31delinsAT | |
NM_000255.4:c.385+30_385+31delinsAT MANE Select | NP_000246.2:n.385+30_385+31delinsAT |