HGVS | Genome Assembly |
---|---|
NC_000016.10:g.46698183_46698202del , CM000678.2:g.46698183_46698202del | GRCh38 |
NC_000016.9:g.46732095_46732114del , CM000678.1:g.46732095_46732114del | GRCh37 |
NC_000016.8:g.45289596_45289615del | NCBI36 |
NG_028241.1:g.13538_13557del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000219097.7:c.*598_*617del MANE Select | ENSP00000219097.2:n.*598_*617del | |
ENST00000219097.6:c.*598_*617del | ENSP00000219097.2:n.*598_*617del | |
ENST00000566860.1:c.*598_*617del | ENSP00000456981.1:n.*598_*617del | |
ENST00000567000.2:n.1361_1380del | ||
NM_014321.3:c.*598_*617del | NP_055136.1:n.*598_*617del | |
NR_037620.1:n.1476_1495del | ||
NM_014321.4:c.*598_*617del MANE Select | NP_055136.1:n.*598_*617del | |
NR_037620.2:n.1463_1482del |