HGVS | Genome Assembly |
---|---|
NC_000004.12:g.41745907_41745912del , CM000666.2:g.41745907_41745912del | GRCh38 |
NC_000004.11:g.41747924_41747929del , CM000666.1:g.41747924_41747929del | GRCh37 |
NC_000004.10:g.41442681_41442686del | NCBI36 |
NG_008243.1:g.8061_8066del , LRG_513:g.8061_8066del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226382.4:c.842_847del MANE Select | ENSP00000226382.2:p.Thr281_Ser282del | |
ENST00000226382.3:c.842_847del | ENSP00000226382.2:p.Thr281_Ser282del | |
NM_003924.3:c.842_847del , LRG_513t1:c.842_847del | NP_003915.2:p.Thr281_Ser282del | |
NM_003924.4:c.842_847del MANE Select | NP_003915.2:p.Thr281_Ser282del |