HGVS | Genome Assembly |
---|---|
NC_000003.12:g.46373453_46373484del , CM000665.2:g.46373453_46373484del | GRCh38 |
NC_000003.11:g.46414944_46414975del , CM000665.1:g.46414944_46414975del | GRCh37 |
NC_000003.10:g.46389948_46389979del | NCBI36 |
NG_012637.1:g.8312_8343del |
HGVS | Amino-acid change | |
---|---|---|
NM_000579.3:c.551_582del | NP_000570.1:p.Ser185IlefsTer? | |
NM_001100168.1:c.551_582del | NP_001093638.1:p.Ser185IlefsTer? | |
NR_125406.1:n.392-2070_392-2039del | ||
NM_000579.4:c.551_582del | NP_000570.1:p.Ser185IlefsTer? | |
NM_001100168.2:c.551_582del | NP_001093638.1:p.Ser185IlefsTer? | |
ENST00000292303.4:c.551_582del | ENSP00000292303.4:p.Ser185IlefsTer? | |
ENST00000445772.1:c.551_582del | ENSP00000404881.1:p.Ser185IlefsTer? |