HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23433456_23433462del , CM000676.2:g.23433456_23433462del | GRCh38 |
NC_000014.8:g.23902665_23902671del , CM000676.1:g.23902665_23902671del | GRCh37 |
NC_000014.7:g.22972505_22972511del | NCBI36 |
NG_007884.1:g.7209_7215del , LRG_384:g.7209_7215del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.201+79_201+85del MANE Select | ENSP00000347507.3:n.201+79_201+85del | |
ENST00000355349.3:c.201+79_201+85del | ENSP00000347507.3:n.201+79_201+85del | |
NM_000257.3:c.201+79_201+85del | NP_000248.2:n.201+79_201+85del | |
XR_245686.3:n.307+79_307+85del | ||
XM_017021340.1:c.201+79_201+85del | XP_016876829.1:n.201+79_201+85del | |
NM_000257.4:c.201+79_201+85del MANE Select | NP_000248.2:n.201+79_201+85del |