HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169541819_169541820insC , CM000663.2:g.169541819_169541820insC | GRCh38 |
NC_000001.10:g.169511057_169511058insC , CM000663.1:g.169511057_169511058insC | GRCh37 |
NC_000001.9:g.167777681_167777682insC | NCBI36 |
NG_011806.1:g.49712_49713insG , LRG_553:g.49712_49713insG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367797.9:c.3270_3271insG MANE Select | ENSP00000356771.3:p.Phe1091ValfsTer9 | |
ENST00000367796.3:c.3285_3286insG | ENSP00000356770.3:p.Phe1096ValfsTer9 | |
ENST00000367797.7:c.3270_3271insG | ENSP00000356771.3:p.Phe1091ValfsTer9 | |
NM_000130.4:c.3270_3271insG , LRG_553t1:c.3270_3271insG | NP_000121.2:p.Phe1091ValfsTer9 | |
XM_017000660.2:c.2859_2860insG | XP_016856149.1:p.Phe954ValfsTer9 | |
NM_000130.5:c.3270_3271insG MANE Select | NP_000121.2:p.Phe1091ValfsTer9 |