HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114713761_114713766del , CM000663.2:g.114713761_114713766del | GRCh38 |
NC_000001.10:g.115256382_115256387del , CM000663.1:g.115256382_115256387del | GRCh37 |
NC_000001.9:g.115057905_115057910del | NCBI36 |
NG_007572.1:g.8130_8135del , LRG_92:g.8130_8135del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.290+35_290+40del MANE Select | ENSP00000358548.4:n.290+35_290+40del | |
ENST00000369535.4:c.290+35_290+40del | ENSP00000358548.4:n.290+35_290+40del | |
NM_002524.4:c.290+35_290+40del | NP_002515.1:n.290+35_290+40del | |
NM_002524.5:c.290+35_290+40del MANE Select | NP_002515.1:n.290+35_290+40del |