HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31125622_31125624del , CM000668.2:g.31125622_31125624del | GRCh38 |
NC_000006.11:g.31093399_31093401del , CM000668.1:g.31093399_31093401del | GRCh37 |
NC_000006.10:g.31201378_31201380del | NCBI36 |
NG_021348.1:g.15792_15794del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259881.10:c.-228-54_-228-52del MANE Select | ENSP00000259881.9:n.-228-54_-228-52del | |
ENST00000259881.9:c.-228-54_-228-52del | ENSP00000259881.9:n.-228-54_-228-52del | |
ENST00000479581.5:n.61+10731_61+10733del | ||
ENST00000548049.1:n.120-57_120-55del | ||
ENST00000550838.1:n.59-117_59-115del | ||
ENST00000552747.1:n.53+10731_53+10733del | ||
NM_014068.2:c.-228-54_-228-52del | NP_054787.2:n.-228-54_-228-52del | |
NM_014068.3:c.-228-54_-228-52del MANE Select | NP_054787.2:n.-228-54_-228-52del |