HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255302_133255303del , CM000671.2:g.133255302_133255303del | GRCh38 |
NC_000009.11:g.136130689_136130690del , CM000671.1:g.136130689_136130690del | GRCh37 |
NC_000009.10:g.135120510_135120511del | NCBI36 |
NG_006669.1:g.22365_22366del | |
NG_006669.2:g.24913_24914del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1457_1458del | ||
ENST00000647353.1:n.54-4151_54-4150del | ||
ENST00000679909.1:c.28+19859_28+19860del | ENSP00000506089.1:n.28+19859_28+19860del | |
ENST00000453660.3:n.1439_1440del | ||
ENST00000611156.4:c.*363_*364del | ENSP00000483265.1:n.*363_*364del | |
NM_020469.2:c.*363_*364del | NP_065202.2:n.*363_*364del | |
NM_020469.3:c.*363_*364del | NP_065202.2:n.*363_*364del |