HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23431316_23431318del , CM000676.2:g.23431316_23431318del | GRCh38 |
NC_000014.8:g.23900525_23900527del , CM000676.1:g.23900525_23900527del | GRCh37 |
NC_000014.7:g.22970365_22970367del | NCBI36 |
NG_007884.1:g.9347_9349del , LRG_384:g.9347_9349del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.796+103_796+105del MANE Select | ENSP00000347507.3:n.796+103_796+105del | |
ENST00000355349.3:c.796+103_796+105del | ENSP00000347507.3:n.796+103_796+105del | |
NM_000257.3:c.796+103_796+105del | NP_000248.2:n.796+103_796+105del | |
XR_245686.3:n.902+103_902+105del | ||
XM_017021340.1:c.796+103_796+105del | XP_016876829.1:n.796+103_796+105del | |
NM_000257.4:c.796+103_796+105del MANE Select | NP_000248.2:n.796+103_796+105del |