HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149978371_149978376del , CM000667.2:g.149978371_149978376del | GRCh38 |
NC_000005.9:g.149357934_149357939del , CM000667.1:g.149357934_149357939del | GRCh37 |
NC_000005.8:g.149338127_149338132del | NCBI36 |
NG_007147.2:g.19489_19494del , LRG_684:g.19489_19494del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000690410.1:n.951_956del | ||
ENST00000286298.5:c.699+20_699+25del MANE Select | ENSP00000286298.4:n.699+20_699+25del | |
ENST00000286298.4:c.699+20_699+25del | ENSP00000286298.4:n.699+20_699+25del | |
ENST00000503336.1:c.372+20_372+25del | ENSP00000426053.1:n.372+20_372+25del | |
NM_000112.3:c.699+20_699+25del , LRG_684t1:c.699+20_699+25del | NP_000103.2:n.699+20_699+25del | |
XM_017009191.2:c.699+20_699+25del | XP_016864680.1:n.699+20_699+25del | |
NM_000112.4:c.699+20_699+25del MANE Select | NP_000103.2:n.699+20_699+25del |