HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152649060_152649061del , CM000669.2:g.152649060_152649061del | GRCh38 |
NC_000007.13:g.152346145_152346146del , CM000669.1:g.152346145_152346146del | GRCh37 |
NC_000007.12:g.151977078_151977079del | NCBI36 |
NG_027988.1:g.32110_32111del | |
NG_027988.2:g.32110_32111del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698506.1:c.261_262del | ENSP00000513758.1:p.Cys88ProfsTer6 | |
ENST00000359321.2:c.429_430del MANE Select | ENSP00000352271.1:p.Cys144ProfsTer6 | |
ENST00000359321.1:c.429_430del | ENSP00000352271.1:p.Cys144ProfsTer6 | |
ENST00000495707.1:n.451_452del | ||
NM_005431.1:c.429_430del | NP_005422.1:p.Cys144ProfsTer6 | |
NM_005431.2:c.429_430del MANE Select | NP_005422.1:p.Cys144ProfsTer6 |