HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255373_133255376del , CM000671.2:g.133255373_133255376del | GRCh38 |
NC_000009.11:g.136130760_136130763del , CM000671.1:g.136130760_136130763del | GRCh37 |
NC_000009.10:g.135120581_135120584del | NCBI36 |
NG_006669.1:g.22292_22295del | |
NG_006669.2:g.24840_24843del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1384_1387del | ||
ENST00000647353.1:n.54-4224_54-4221del | ||
ENST00000679909.1:c.28+19786_28+19789del | ENSP00000506089.1:n.28+19786_28+19789del | |
ENST00000453660.3:n.1366_1369del | ||
ENST00000611156.4:c.*290_*293del | ENSP00000483265.1:n.*290_*293del | |
NM_020469.2:c.*290_*293del | NP_065202.2:n.*290_*293del | |
NM_020469.3:c.*290_*293del | NP_065202.2:n.*290_*293del |