HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869256_240869268delinsTGCCCTGGAGGCC , CM000664.2:g.240869256_240869268delinsTGCCCTGGAGGCC | GRCh38 |
NC_000002.11:g.241808673_241808685delinsTGCCCTGGAGGCC , CM000664.1:g.241808673_241808685delinsTGCCCTGGAGGCC | GRCh37 |
NC_000002.10:g.241457346_241457358delinsTGCCCTGGAGGCC | NCBI36 |
NG_008005.1:g.5512_5524delinsTGCCCTGGAGGCC |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.252_264delinsTGCCCTGGAGGCC MANE Select | ENSP00000302620.3:p.Cys84= | |
ENST00000307503.3:c.252_264delinsTGCCCTGGAGGCC | ENSP00000302620.3:p.Cys84= | |
ENST00000472436.1:n.272_284delinsTGCCCTGGAGGCC | ||
NM_000030.2:c.252_264delinsTGCCCTGGAGGCC | NP_000021.1:p.Cys84= | |
XR_924060.1:n.405+965_405+977delinsGGCCTCCAGGGCA | ||
NM_000030.3:c.252_264delinsTGCCCTGGAGGCC MANE Select | NP_000021.1:p.Cys84= |