HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149981449_149981450del , CM000667.2:g.149981449_149981450del | GRCh38 |
NC_000005.9:g.149361012_149361013del , CM000667.1:g.149361012_149361013del | GRCh37 |
NC_000005.8:g.149341205_149341206del | NCBI36 |
NG_007147.2:g.22567_22568del , LRG_684:g.22567_22568del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286298.5:c.1856_1857del MANE Select | ENSP00000286298.4:p.Arg619LysfsTer15 | |
ENST00000286298.4:c.1856_1857del | ENSP00000286298.4:p.Arg619LysfsTer15 | |
ENST00000503336.1:c.372+3098_372+3099del | ENSP00000426053.1:n.372+3098_372+3099del | |
NM_000112.3:c.1856_1857del , LRG_684t1:c.1856_1857del | NP_000103.2:p.Arg619LysfsTer15 | |
XM_017009191.2:c.1856_1857del | XP_016864680.1:p.Arg619LysfsTer15 | |
NM_000112.4:c.1856_1857del MANE Select | NP_000103.2:p.Arg619LysfsTer15 |