HGVS | Genome Assembly |
---|---|
NC_000007.14:g.152660746_152660748del , CM000669.2:g.152660746_152660748del | GRCh38 |
NC_000007.13:g.152357831_152357833del , CM000669.1:g.152357831_152357833del | GRCh37 |
NC_000007.12:g.151988764_151988766del | NCBI36 |
NG_027988.1:g.20420_20422del | |
NG_027988.2:g.20420_20422del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000698506.1:c.-47-11383_-47-11381del | ENSP00000513758.1:n.-47-11383_-47-11381del | |
ENST00000698507.1:n.144_146del | ||
ENST00000359321.2:c.76_78del MANE Select | ENSP00000352271.1:p.Glu26del | |
ENST00000359321.1:c.76_78del | ENSP00000352271.1:p.Glu26del | |
ENST00000495707.1:n.98_100del | ||
NM_005431.1:c.76_78del | NP_005422.1:p.Glu26del | |
NM_005431.2:c.76_78del MANE Select | NP_005422.1:p.Glu26del |