HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23431335_23431338del , CM000676.2:g.23431335_23431338del | GRCh38 |
NC_000014.8:g.23900544_23900547del , CM000676.1:g.23900544_23900547del | GRCh37 |
NC_000014.7:g.22970384_22970387del | NCBI36 |
NG_007884.1:g.9333_9336del , LRG_384:g.9333_9336del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.796+89_796+92del MANE Select | ENSP00000347507.3:n.796+89_796+92del | |
ENST00000355349.3:c.796+89_796+92del | ENSP00000347507.3:n.796+89_796+92del | |
NM_000257.3:c.796+89_796+92del | NP_000248.2:n.796+89_796+92del | |
XR_245686.3:n.902+89_902+92del | ||
XM_017021340.1:c.796+89_796+92del | XP_016876829.1:n.796+89_796+92del | |
NM_000257.4:c.796+89_796+92del MANE Select | NP_000248.2:n.796+89_796+92del |