HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3225623_3225624del , CM000668.2:g.3225623_3225624del | GRCh38 |
NC_000006.11:g.3225857_3225858del , CM000668.1:g.3225857_3225858del | GRCh37 |
NC_000006.10:g.3170856_3170857del | NCBI36 |
NG_016715.1:g.7111_7112del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259818.8:c.465_466del MANE Select | ENSP00000259818.6:p.Ile155MetfsTer? | |
ENST00000680070.1:n.1395_1396del | ||
ENST00000681707.1:n.1292_1293del | ||
ENST00000681757.1:n.770_771del | ||
ENST00000259818.7:c.465_466del | ENSP00000259818.6:p.Ile155MetfsTer? | |
ENST00000473006.1:n.582_583del | ||
NM_178012.4:c.465_466del | NP_821080.1:p.Ile155MetfsTer? | |
XM_011514571.1:c.249_250del | XP_011512873.1:p.Ile83MetfsTer? | |
NM_178012.5:c.465_466del MANE Select | NP_821080.1:p.Ile155MetfsTer? |