HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20242587_20242588insCTGGCAGCAGGGA , CM000684.2:g.20242587_20242588insCTGGCAGCAGGGA | GRCh38 |
NC_000022.10:g.20230110_20230111insCTGGCAGCAGGGA , CM000684.1:g.20230110_20230111insCTGGCAGCAGGGA | GRCh37 |
NC_000022.9:g.18610110_18610111insCTGGCAGCAGGGA | NCBI36 |
NG_012176.1:g.30706_30707insTCCCTGCTGCCAG | |
NG_012176.2:g.30706_30707insTCCCTGCTGCCAG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000043402.8:c.545_546insTCCCTGCTGCCAG MANE Select | ENSP00000043402.7:p.Leu183ProfsTer? | |
ENST00000043402.7:c.545_546insTCCCTGCTGCCAG | ENSP00000043402.7:p.Leu183ProfsTer? | |
ENST00000416372.5:c.604_605insTCCCTGCTGCCAG | ||
ENST00000425986.1:c.802_803insTCCCTGCTGCCAG | ||
NM_023004.5:c.545_546insTCCCTGCTGCCAG | NP_075380.1:p.Leu183ProfsTer? | |
NM_023004.6:c.545_546insTCCCTGCTGCCAG MANE Select | NP_075380.1:p.Leu183ProfsTer? |