HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23423490_23423497del , CM000676.2:g.23423490_23423497del | GRCh38 |
NC_000014.8:g.23892699_23892706del , CM000676.1:g.23892699_23892706del | GRCh37 |
NC_000014.7:g.22962539_22962546del | NCBI36 |
NG_007884.1:g.17165_17172del , LRG_384:g.17165_17172del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3099+50_3099+57del MANE Select | ENSP00000347507.3:n.3099+50_3099+57del | |
ENST00000355349.3:c.3099+50_3099+57del | ENSP00000347507.3:n.3099+50_3099+57del | |
NM_000257.3:c.3099+50_3099+57del | NP_000248.2:n.3099+50_3099+57del | |
XR_245686.3:n.3205+50_3205+57del | ||
XM_017021340.1:c.3099+50_3099+57del | XP_016876829.1:n.3099+50_3099+57del | |
NM_000257.4:c.3099+50_3099+57del MANE Select | NP_000248.2:n.3099+50_3099+57del |