HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40848631_40848632delinsGC , CM000681.2:g.40848631_40848632delinsGC | GRCh38 |
NC_000019.9:g.41354536_41354537delinsGC , CM000681.1:g.41354536_41354537delinsGC | GRCh37 |
NC_000019.8:g.46046376_46046377delinsGC | NCBI36 |
NG_008377.1:g.6816_6817delinsGC |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301141.10:c.475_476delinsGC MANE Select | ENSP00000301141.4:p.Ala159= | |
ENST00000301141.9:c.475_476delinsGC | ENSP00000301141.4:p.Ala159= | |
ENST00000596719.5:n.326_327delinsGC | ||
ENST00000600495.1:c.*287_*288delinsGC | ENSP00000472905.1:n.*287_*288delinsGC | |
ENST00000601627.1:c.120-43360_120-43359delinsGC | ||
ENST00000610301.1:c.475_476delinsGC | ENSP00000477899.1:p.Ala159= | |
NM_000762.5:c.475_476delinsGC | NP_000753.3:p.Ala159= | |
NM_000762.6:c.475_476delinsGC MANE Select | NP_000753.3:p.Ala159= |