HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110578686_110578688del , CM000672.2:g.110578686_110578688del | GRCh38 |
NC_000010.10:g.112338444_112338446del , CM000672.1:g.112338444_112338446del | GRCh37 |
NC_000010.9:g.112328434_112328436del | NCBI36 |
NG_012217.1:g.15996_15998del , LRG_774:g.15996_15998del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684988.1:n.542_544del | ||
ENST00000687823.1:n.323_325del | ||
ENST00000689932.1:n.2472_2474del | ||
ENST00000691297.1:n.542_544del | ||
ENST00000691527.1:n.1212_1214del | ||
ENST00000692792.1:n.528_530del | ||
ENST00000361804.5:c.409_411del MANE Select | ENSP00000354720.5:p.Tyr137del | |
ENST00000361804.4:c.409_411del | ENSP00000354720.4:p.Tyr137del | |
ENST00000462899.1:n.555_557del | ||
NM_005445.3:c.409_411del , LRG_774t1:c.409_411del | NP_005436.1:p.Tyr137del | |
NM_005445.4:c.409_411del MANE Select | NP_005436.1:p.Tyr137del |