HGVS | Genome Assembly |
---|---|
NC_000023.11:g.43949932_43949936dup , CM000685.2:g.43949932_43949936dup | GRCh38 |
NC_000023.10:g.43809178_43809182dup , CM000685.1:g.43809178_43809182dup | GRCh37 |
NC_000023.9:g.43694122_43694126dup | NCBI36 |
NG_009832.1:g.28744_28748dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000642620.1:c.269_273dup (NDP) MANE Select | ENSP00000495972.1:p.Ser92ValfsTer14 | |
ENST00000647044.1:c.269_273dup (NDP) | ENSP00000495811.1:p.Ser92ValfsTer14 | |
ENST00000378062.5:c.269_273dup (NDP) | ENSP00000367301.5:p.Ser92ValfsTer14 | |
ENST00000470584.1:n.313_317dup (NDP) | ||
NM_000266.3:c.269_273dup (NDP) | NP_000257.1:p.Ser92ValfsTer14 | |
NR_046631.1:n.201_205dup (NDP-AS1) | ||
NM_000266.4:c.269_273dup (NDP) MANE Select | NP_000257.1:p.Ser92ValfsTer14 |