HGVS | Genome Assembly |
---|---|
NC_000017.11:g.30234834del , CM000679.2:g.30234834del | GRCh38 |
NC_000017.10:g.28561852del , CM000679.1:g.28561852del | GRCh37 |
NC_000017.9:g.25585978del | NCBI36 |
NG_011747.2:g.6103del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650711.1:c.-221+779del MANE Select | ENSP00000498537.1:n.-221+779del | |
ENST00000261707.7:c.-221+779del | ENSP00000261707.3:n.-221+779del | |
ENST00000394821.2:c.-221+779del | ENSP00000378298.2:n.-221+779del | |
ENST00000401766.6:c.-124+779del | ENSP00000385822.2:n.-124+779del | |
NM_001045.5:c.-221+779del | NP_001036.1:n.-221+779del | |
NM_001045.6:c.-221+779del MANE Select | NP_001036.1:n.-221+779del |