HGVS | Genome Assembly |
---|---|
NC_000023.11:g.120627221_120627222del , CM000685.2:g.120627221_120627222del | GRCh38 |
NC_000023.10:g.119761076_119761077del , CM000685.1:g.119761076_119761077del | GRCh37 |
NC_000023.9:g.119645104_119645105del | NCBI36 |
NG_016219.1:g.7930_7931del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304661.6:c.-5-50_-5-49del MANE Select | ENSP00000304364.5:n.-5-50_-5-49del | |
ENST00000304661.5:c.-5-50_-5-49del | ENSP00000304364.5:n.-5-50_-5-49del | |
ENST00000371313.2:c.-6+35_-6+36del | ENSP00000360363.2:n.-6+35_-6+36del | |
NM_001011551.2:c.-5-50_-5-49del | NP_001011551.1:n.-5-50_-5-49del | |
NM_152692.4:c.-6+35_-6+36del | NP_689905.1:n.-6+35_-6+36del | |
NM_001011551.3:c.-5-50_-5-49del MANE Select | NP_001011551.1:n.-5-50_-5-49del | |
NM_152692.5:c.-6+35_-6+36del | NP_689905.1:n.-6+35_-6+36del |