HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2278378del , CM000678.2:g.2278378del | GRCh38 |
NC_000016.9:g.2328379del , CM000678.1:g.2328379del | GRCh37 |
NC_000016.8:g.2268380del | NCBI36 |
NG_011790.1:g.67369del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.4628del MANE Select | ENSP00000301732.5:p.Thr1543MetfsTer? | |
ENST00000301732.9:c.4628del | ENSP00000301732.5:p.Thr1543MetfsTer? | |
ENST00000382381.7:c.4454del | ENSP00000371818.3:p.Thr1485MetfsTer? | |
ENST00000566200.1:n.1149del | ||
NM_001089.2:c.4628del | NP_001080.2:p.Thr1543MetfsTer? | |
NM_001089.3:c.4628del MANE Select | NP_001080.2:p.Thr1543MetfsTer? |