HGVS | Genome Assembly |
---|---|
NC_000016.10:g.46698121_46698124del , CM000678.2:g.46698121_46698124del | GRCh38 |
NC_000016.9:g.46732033_46732036del , CM000678.1:g.46732033_46732036del | GRCh37 |
NC_000016.8:g.45289534_45289537del | NCBI36 |
NG_028241.1:g.13476_13479del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000219097.7:c.*536_*539del MANE Select | ENSP00000219097.2:n.*536_*539del | |
ENST00000219097.6:c.*536_*539del | ENSP00000219097.2:n.*536_*539del | |
ENST00000566860.1:c.*536_*539del | ENSP00000456981.1:n.*536_*539del | |
ENST00000567000.2:n.1299_1302del | ||
NM_014321.3:c.*536_*539del | NP_055136.1:n.*536_*539del | |
NR_037620.1:n.1414_1417del | ||
NM_014321.4:c.*536_*539del MANE Select | NP_055136.1:n.*536_*539del | |
NR_037620.2:n.1401_1404del |