HGVS | Genome Assembly |
---|---|
NC_000016.10:g.46698162_46698171del , CM000678.2:g.46698162_46698171del | GRCh38 |
NC_000016.9:g.46732074_46732083del , CM000678.1:g.46732074_46732083del | GRCh37 |
NC_000016.8:g.45289575_45289584del | NCBI36 |
NG_028241.1:g.13517_13526del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000219097.7:c.*577_*586del MANE Select | ENSP00000219097.2:n.*577_*586del | |
ENST00000219097.6:c.*577_*586del | ENSP00000219097.2:n.*577_*586del | |
ENST00000566860.1:c.*577_*586del | ENSP00000456981.1:n.*577_*586del | |
ENST00000567000.2:n.1340_1349del | ||
NM_014321.3:c.*577_*586del | NP_055136.1:n.*577_*586del | |
NR_037620.1:n.1455_1464del | ||
NM_014321.4:c.*577_*586del MANE Select | NP_055136.1:n.*577_*586del | |
NR_037620.2:n.1442_1451del |