HGVS | Genome Assembly |
---|---|
NC_000001.11:g.204159413del , CM000663.2:g.204159413del | GRCh38 |
NC_000001.10:g.204128541del , CM000663.1:g.204128541del | GRCh37 |
NC_000001.9:g.202395164del | NCBI36 |
NG_012122.1:g.11927del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000272190.9:c.677del MANE Select | ENSP00000272190.8:p.Phe226SerfsTer? | |
ENST00000638118.1:c.563del | ENSP00000490307.1:p.Phe188SerfsTer? | |
ENST00000272190.8:c.677del | ENSP00000272190.8:p.Phe226SerfsTer? | |
NM_000537.3:c.677del | NP_000528.1:p.Phe226SerfsTer? | |
NM_000537.4:c.677del MANE Select | NP_000528.1:p.Phe226SerfsTer? |