HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2866859_2866860del , CM000686.2:g.2866859_2866860del | GRCh38 |
NC_000024.9:g.2734900_2734901del , CM000686.1:g.2734900_2734901del | GRCh37 |
NC_000024.8:g.2794900_2794901del | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000250784.13:c.757_758del MANE Select | ENSP00000250784.7:p.Asp253Ter | |
ENST00000250784.12:c.757_758del | ENSP00000250784.7:p.Asp253Ter | |
ENST00000430575.1:c.784_785del | ENSP00000415317.1:p.Asp262= | |
ENST00000477725.1:n.901_902del | ||
ENST00000515575.1:n.42+12088_42+12089del | ||
NM_001008.3:c.757_758del | NP_000999.1:p.Asp253Ter | |
NM_001008.4:c.757_758del MANE Select | NP_000999.1:p.Asp253Ter |