HGVS | Genome Assembly |
---|---|
NC_000001.11:g.46413825_46413826del , CM000663.2:g.46413825_46413826del | GRCh38 |
NC_000001.10:g.46879497_46879498del , CM000663.1:g.46879497_46879498del | GRCh37 |
NC_000001.9:g.46652084_46652085del | NCBI36 |
NG_012195.1:g.24559_24560del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000243167.9:c.*250_*251del MANE Select | ENSP00000243167.8:n.*250_*251del | |
ENST00000243167.8:c.*250_*251del | ENSP00000243167.8:n.*250_*251del | |
ENST00000484697.5:c.1023_1024del | ||
NM_001441.2:c.*250_*251del | NP_001432.2:n.*250_*251del | |
NM_001441.3:c.*250_*251del MANE Select | NP_001432.2:n.*250_*251del |