HGVS | Genome Assembly |
---|---|
NC_000021.9:g.34370848_34370849del , CM000683.2:g.34370848_34370849del | GRCh38 |
NC_000021.8:g.35743147_35743148del , CM000683.1:g.35743147_35743148del | GRCh37 |
NC_000021.7:g.34665017_34665018del | NCBI36 |
NG_008804.1:g.11825_11826del , LRG_291:g.11825_11826del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290310.4:c.370_371del MANE Select | ENSP00000290310.2:p.Ter124IleextTer15 | |
ENST00000290310.3:c.370_371del | ENSP00000290310.2:p.Ter124IleextTer15 | |
NM_172201.1:c.370_371del , LRG_291t1:c.370_371del | NP_751951.1:p.Ter124IleextTer15 | |
XR_937683.1:n.472_473del | ||
XR_937684.1:n.472_473del | ||
XR_001755012.2:n.593_594del | ||
XR_001755013.2:n.472_473del | ||
XR_937683.2:n.472_473del | ||
NM_172201.2:c.370_371del MANE Select | NP_751951.1:p.Ter124IleextTer15 |