HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225664_5225672del , CM000673.2:g.5225664_5225672del | GRCh38 |
NC_000011.9:g.5246894_5246902del , CM000673.1:g.5246894_5246902del | GRCh37 |
NC_000011.8:g.5203470_5203478del | NCBI36 |
NG_000007.3:g.71944_71952del | |
NG_059281.1:g.6400_6408del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.370_378del | ENSP00000494175.1:p.Thr124_Pro126del | |
ENST00000335295.4:c.370_378del MANE Select | ENSP00000333994.3:p.Thr124_Pro126del | |
ENST00000475226.1:n.302_310del | ||
ENST00000633227.1:c.*186_*194del | ENSP00000488004.1:n.*186_*194del | |
NM_000518.4:c.370_378del | NP_000509.1:p.Thr124_Pro126del | |
NM_000518.5:c.370_378del MANE Select | NP_000509.1:p.Thr124_Pro126del |