HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257425_133257426del , CM000671.2:g.133257425_133257426del | GRCh38 |
NC_000009.11:g.136132812_136132813del , CM000671.1:g.136132812_136132813del | GRCh37 |
NC_000009.10:g.135122633_135122634del | NCBI36 |
NG_006669.1:g.20245_20246del | |
NG_006669.2:g.22793_22794del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.389_390del | ||
ENST00000647353.1:n.54-6271_54-6270del | ||
ENST00000651471.1:n.329+619_329+620del | ||
ENST00000679909.1:c.28+17739_28+17740del | ENSP00000506089.1:n.28+17739_28+17740del | |
ENST00000453660.3:n.371_372del | ||
ENST00000538324.2:c.357_358del | ENSP00000483018.1:p.Phe120CysfsTer? | |
ENST00000611156.4:c.357_358del | ENSP00000483265.1:p.Phe120CysfsTer? | |
NM_020469.2:c.360_361del | NP_065202.2:p.Phe121CysfsTer? | |
NM_020469.3:c.360_361del | NP_065202.2:p.Phe121CysfsTer? |