HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23423489_23423490del , CM000676.2:g.23423489_23423490del | GRCh38 |
NC_000014.8:g.23892698_23892699del , CM000676.1:g.23892698_23892699del | GRCh37 |
NC_000014.7:g.22962538_22962539del | NCBI36 |
NG_007884.1:g.17174_17175del , LRG_384:g.17174_17175del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3099+59_3099+60del MANE Select | ENSP00000347507.3:n.3099+59_3099+60del | |
ENST00000355349.3:c.3099+59_3099+60del | ENSP00000347507.3:n.3099+59_3099+60del | |
NM_000257.3:c.3099+59_3099+60del | NP_000248.2:n.3099+59_3099+60del | |
XR_245686.3:n.3205+59_3205+60del | ||
XM_017021340.1:c.3099+59_3099+60del | XP_016876829.1:n.3099+59_3099+60del | |
NM_000257.4:c.3099+59_3099+60del MANE Select | NP_000248.2:n.3099+59_3099+60del |