HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23431878_23431893del , CM000676.2:g.23431878_23431893del | GRCh38 |
NC_000014.8:g.23901087_23901102del , CM000676.1:g.23901087_23901102del | GRCh37 |
NC_000014.7:g.22970927_22970942del | NCBI36 |
NG_007884.1:g.8770_8785del , LRG_384:g.8770_8785del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.531-23_531-8del MANE Select | ENSP00000347507.3:n.531-23_531-8del | |
ENST00000355349.3:c.531-23_531-8del | ENSP00000347507.3:n.531-23_531-8del | |
NM_000257.3:c.531-23_531-8del | NP_000248.2:n.531-23_531-8del | |
XR_245686.3:n.637-23_637-8del | ||
XM_017021340.1:c.531-23_531-8del | XP_016876829.1:n.531-23_531-8del | |
NM_000257.4:c.531-23_531-8del MANE Select | NP_000248.2:n.531-23_531-8del |