HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23423472_23423487del , CM000676.2:g.23423472_23423487del | GRCh38 |
NC_000014.8:g.23892681_23892696del , CM000676.1:g.23892681_23892696del | GRCh37 |
NC_000014.7:g.22962521_22962536del | NCBI36 |
NG_007884.1:g.17210_17225del , LRG_384:g.17210_17225del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3099+95_3099+110del MANE Select | ENSP00000347507.3:n.3099+95_3099+110del | |
ENST00000355349.3:c.3099+95_3099+110del | ENSP00000347507.3:n.3099+95_3099+110del | |
NM_000257.3:c.3099+95_3099+110del | NP_000248.2:n.3099+95_3099+110del | |
XR_245686.3:n.3205+95_3205+110del | ||
XM_017021340.1:c.3099+95_3099+110del | XP_016876829.1:n.3099+95_3099+110del | |
NM_000257.4:c.3099+95_3099+110del MANE Select | NP_000248.2:n.3099+95_3099+110del |