HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339783dup , CM000669.2:g.17339783dup | GRCh38 |
NC_000007.13:g.17379407dup , CM000669.1:g.17379407dup | GRCh37 |
NC_000007.12:g.17345932dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.1958dup MANE Select | ENSP00000242057.4:p.Asn653LysfsTer5 | |
ENST00000637807.1:c.1928dup | ENSP00000490530.1:p.Asn643LysfsTer5 | |
ENST00000642825.1:c.1913dup | ENSP00000495987.1:p.Asn638LysfsTer5 | |
ENST00000242057.8:c.1958dup | ENSP00000242057.4:p.Asn653LysfsTer5 | |
ENST00000463496.1:c.1958dup | ENSP00000436466.1:p.Asn653LysfsTer5 | |
NM_001621.4:c.1958dup | NP_001612.1:p.Asn653LysfsTer5 | |
NM_001621.5:c.1958dup MANE Select | NP_001612.1:p.Asn653LysfsTer5 |