HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94060638del , CM000663.2:g.94060638del | GRCh38 |
NC_000001.10:g.94526194del , CM000663.1:g.94526194del | GRCh37 |
NC_000001.9:g.94298782del | NCBI36 |
NG_009073.1:g.65516del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.2063del MANE Select | ENSP00000359245.3:p.Asn688IlefsTer8 | |
ENST00000649773.1:c.2063del | ENSP00000496882.1:p.Asn688IlefsTer8 | |
ENST00000370225.3:c.2063del | ENSP00000359245.3:p.Asn688IlefsTer8 | |
ENST00000472033.1:n.183del | ||
ENST00000536513.5:c.-65+2540del | ENSP00000439707.2:n.-65+2540del | |
NM_000350.2:c.2063del | NP_000341.2:p.Asn688IlefsTer8 | |
NM_000350.3:c.2063del MANE Select | NP_000341.2:p.Asn688IlefsTer8 |