HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40561601_40561602del , CM000679.2:g.40561601_40561602del | GRCh38 |
NC_000017.10:g.38717853_38717854del , CM000679.1:g.38717853_38717854del | GRCh37 |
NC_000017.9:g.35971379_35971380del | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000246657.2:c.11-2656_11-2655del MANE Select | ENSP00000246657.2:n.11-2656_11-2655del | |
ENST00000578085.1:c.-130+3802_-130+3803del | ENSP00000463075.1:n.-130+3802_-130+3803de... | |
NM_001301714.1:c.-130+3802_-130+3803del | NP_001288643.1:n.-130+3802_-130+3803del | |
NM_001838.3:c.11-2656_11-2655del | NP_001829.1:n.11-2656_11-2655del | |
NM_001838.4:c.11-2656_11-2655del MANE Select | NP_001829.1:n.11-2656_11-2655del | |
NM_001301714.2:c.-130+3802_-130+3803del | NP_001288643.1:n.-130+3802_-130+3803del |