HGVS | Genome Assembly |
---|---|
NC_000010.11:g.80275126_80275127delinsGC , CM000672.2:g.80275126_80275127delinsGC | GRCh38 |
NC_000010.10:g.82034882_82034883delinsGC , CM000672.1:g.82034882_82034883delinsGC | GRCh37 |
NC_000010.9:g.82024862_82024863delinsGC | NCBI36 |
NG_008083.1:g.19552_19553delinsGC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372213.8:c.841_842delinsGC MANE Select | ENSP00000361287.3:p.Ala281= | |
ENST00000372213.7:c.841_842delinsGC | ENSP00000361287.3:p.Ala281= | |
ENST00000480845.1:n.73_74delinsGC | ||
ENST00000485270.5:n.353_354delinsGC | ||
NM_000429.2:c.841_842delinsGC | NP_000420.1:p.Ala281= | |
XM_005269842.3:c.841_842delinsGC | XP_005269899.1:p.Ala281= | |
XM_005269843.3:c.718_719delinsGC | XP_005269900.1:p.Ala240= | |
NM_000429.3:c.841_842delinsGC MANE Select | NP_000420.1:p.Ala281= |