HGVS | Genome Assembly |
---|---|
NC_000006.12:g.49459168_49459169dup , CM000668.2:g.49459168_49459169dup | GRCh38 |
NC_000006.11:g.49426881_49426882dup , CM000668.1:g.49426881_49426882dup | GRCh37 |
NC_000006.10:g.49534840_49534841dup | NCBI36 |
NG_007100.1:g.8973_8974dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274813.4:c.300_301dup MANE Select | ENSP00000274813.3:p.Thr101IlefsTer? | |
ENST00000274813.3:c.300_301dup | ENSP00000274813.3:p.Thr101IlefsTer? | |
NM_000255.3:c.300_301dup | NP_000246.2:p.Thr101IlefsTer? | |
XM_005249143.2:c.300_301dup | XP_005249200.1:p.Thr101IlefsTer? | |
XM_005249143.3:c.300_301dup | XP_005249200.1:p.Thr101IlefsTer? | |
NM_000255.4:c.300_301dup MANE Select | NP_000246.2:p.Thr101IlefsTer? |