HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5226787_5226790delinsGACC , CM000673.2:g.5226787_5226790delinsGACC | GRCh38 |
NC_000011.9:g.5248017_5248020delinsGACC , CM000673.1:g.5248017_5248020delinsGACC | GRCh37 |
NC_000011.8:g.5204593_5204596delinsGACC | NCBI36 |
NG_000007.3:g.70826_70829delinsGGTC | |
NG_059281.1:g.5282_5285delinsGGTC |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.102_105delinsGGTC | ENSP00000494175.1:p.Val34= | |
ENST00000335295.4:c.102_105delinsGGTC MANE Select | ENSP00000333994.3:p.Val34= | |
ENST00000380315.2:c.102_105delinsGGTC | ENSP00000369671.2:p.Val34= | |
ENST00000475226.1:n.34_37delinsGGTC | ||
ENST00000485743.1:n.153_156delinsGGTC | ||
ENST00000633227.1:c.86_89delinsGGTC | ENSP00000488004.1:p.Trp29= | |
NM_000518.4:c.102_105delinsGGTC | NP_000509.1:p.Val34= | |
NM_000518.5:c.102_105delinsGGTC MANE Select | NP_000509.1:p.Val34= |