HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255270_133255321del , CM000671.2:g.133255270_133255321del | GRCh38 |
NC_000009.11:g.136130657_136130708del , CM000671.1:g.136130657_136130708del | GRCh37 |
NC_000009.10:g.135120478_135120529del | NCBI36 |
NG_006669.1:g.22347_22398del | |
NG_006669.2:g.24895_24946del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1439_1490del | ||
ENST00000647353.1:n.54-4169_54-4118del | ||
ENST00000679909.1:c.28+19841_28+19892del | ENSP00000506089.1:n.28+19841_28+19892del | |
ENST00000453660.3:n.1421_1472del | ||
ENST00000611156.4:c.*345_*396del | ENSP00000483265.1:n.*345_*396del | |
NM_020469.2:c.*345_*396del | NP_065202.2:n.*345_*396del | |
NM_020469.3:c.*345_*396del | NP_065202.2:n.*345_*396del |