HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129813669_129813671delinsCAG , CM000671.2:g.129813669_129813671delinsCAG | GRCh38 |
NC_000009.11:g.132575948_132575950delinsCAG , CM000671.1:g.132575948_132575950delinsCAG | GRCh37 |
NC_000009.10:g.131615769_131615771delinsCAG | NCBI36 |
NG_008049.1:g.15492_15494delinsCTG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.*301_*303delinsCTG MANE Select | ENSP00000345719.4:n.*301_*303delinsCTG | |
ENST00000651202.1:c.*568_*570delinsCTG | ENSP00000498222.1:n.*568_*570delinsCTG | |
ENST00000351698.4:c.*301_*303delinsCTG | ENSP00000345719.4:n.*301_*303delinsCTG | |
ENST00000474192.1:n.884_886delinsCTG | ||
NM_000113.2:c.*301_*303delinsCTG | NP_000104.1:n.*301_*303delinsCTG | |
XR_929731.3:n.1495_1497delinsCTG | ||
NM_000113.3:c.*301_*303delinsCTG MANE Select | NP_000104.1:n.*301_*303delinsCTG |