HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23423436_23423457del , CM000676.2:g.23423436_23423457del | GRCh38 |
NC_000014.8:g.23892645_23892666del , CM000676.1:g.23892645_23892666del | GRCh37 |
NC_000014.7:g.22962485_22962506del | NCBI36 |
NG_007884.1:g.17210_17231del , LRG_384:g.17210_17231del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3099+95_3099+116del MANE Select | ENSP00000347507.3:n.3099+95_3099+116del | |
ENST00000355349.3:c.3099+95_3099+116del | ENSP00000347507.3:n.3099+95_3099+116del | |
NM_000257.3:c.3099+95_3099+116del | NP_000248.2:n.3099+95_3099+116del | |
XR_245686.3:n.3205+95_3205+116del | ||
XM_017021340.1:c.3099+95_3099+116del | XP_016876829.1:n.3099+95_3099+116del | |
NM_000257.4:c.3099+95_3099+116del MANE Select | NP_000248.2:n.3099+95_3099+116del |