HGVS | Genome Assembly |
---|---|
NC_000014.9:g.36663375_36663376del , CM000676.2:g.36663375_36663376del | GRCh38 |
NC_000014.8:g.37132580_37132581del , CM000676.1:g.37132580_37132581del | GRCh37 |
NC_000014.7:g.36202331_36202332del | NCBI36 |
NG_013357.1:g.10808_10809del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361487.7:c.483_484del MANE Select | ENSP00000355245.6:p.Tyr162ProfsTer? | |
ENST00000361487.6:c.483_484del | ENSP00000355245.6:p.Tyr162ProfsTer? | |
ENST00000402703.6:c.483_484del | ENSP00000384817.2:p.Tyr162ProfsTer? | |
ENST00000554201.1:c.-79_-78del | ENSP00000450434.1:n.-79_-78del | |
NM_006194.3:c.483_484del | NP_006185.1:p.Tyr162ProfsTer? | |
NM_001372076.1:c.483_484del MANE Select | NP_001359005.1:p.Tyr162ProfsTer? | |
NM_006194.4:c.483_484del | NP_006185.1:p.Tyr162ProfsTer? |