HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740693_67740698del , CM000666.2:g.67740693_67740698del | GRCh38 |
NC_000004.11:g.68606411_68606416del , CM000666.1:g.68606411_68606416del | GRCh37 |
NC_000004.10:g.68289006_68289011del | NCBI36 |
NG_009293.1:g.20389_20394del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.769_774del MANE Select | ENSP00000226413.5:p.Asn257_Ile258del | |
ENST00000226413.4:c.769_774del | ENSP00000226413.4:p.Asn257_Ile258del | |
ENST00000420975.2:c.641_646del | ENSP00000397561.2:p.Gln214_Thr216delinsPro | |
NM_000406.2:c.769_774del | NP_000397.1:p.Asn257_Ile258del | |
NM_001012763.1:c.641_646del | NP_001012781.1:p.Gln214_Thr216delinsPro | |
NM_000406.3:c.769_774del MANE Select | NP_000397.1:p.Asn257_Ile258del | |
NM_001012763.2:c.641_646del | NP_001012781.1:p.Gln214_Thr216delinsPro |