HGVS | Genome Assembly |
---|---|
NC_000003.12:g.8745520del , CM000665.2:g.8745520del | GRCh38 |
NC_000003.11:g.8787206del , CM000665.1:g.8787206del | GRCh37 |
NC_000003.10:g.8762206del | NCBI36 |
NG_008797.2:g.16711del , LRG_329:g.16711del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343849.3:c.115-6del MANE Select | ENSP00000341940.2:n.115-6del | |
ENST00000343849.2:c.115-6del | ENSP00000341940.2:n.115-6del | |
ENST00000397368.2:c.115-6del | ENSP00000380525.2:n.115-6del | |
ENST00000472766.1:n.155+11530del | ||
NM_001234.4:c.115-6del | NP_001225.1:n.115-6del | |
NM_033337.2:c.115-6del , LRG_329t1:c.115-6del | NP_203123.1:n.115-6del | |
NM_001234.5:c.115-6del | NP_001225.1:n.115-6del | |
NM_033337.3:c.115-6del MANE Select | NP_203123.1:n.115-6del |