HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110914287_110914288insCT , CM000674.2:g.110914287_110914288insCT | GRCh38 |
NC_000012.11:g.111352091_111352092insCT , CM000674.1:g.111352091_111352092insCT | GRCh37 |
NC_000012.10:g.109836474_109836475insCT | NCBI36 |
NG_007554.1:g.11290_11291insAG , LRG_393:g.11290_11291insAG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000228841.15:c.172_173insAG MANE Select | ENSP00000228841.8:p.Arg58GlnfsTer3 | |
ENST00000663220.1:c.115_116insAG | ENSP00000499568.1:p.Arg39GlnfsTer3 | |
ENST00000228841.12:c.172_173insAG | ENSP00000228841.7:p.Arg58GlnfsTer3 | |
ENST00000548438.1:c.130_131insAG | ENSP00000447154.1:p.Arg44GlnfsTer3 | |
ENST00000549029.1:n.3_4insAG | ||
NM_000432.3:c.172_173insAG , LRG_393t1:c.172_173insAG | NP_000423.2:p.Arg58GlnfsTer3 | |
NM_000432.4:c.172_173insAG MANE Select | NP_000423.2:p.Arg58GlnfsTer3 |