HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24278578_24278579del , CM000668.2:g.24278578_24278579del | GRCh38 |
NC_000006.11:g.24278806_24278807del , CM000668.1:g.24278806_24278807del | GRCh37 |
NC_000006.10:g.24386785_24386786del | NCBI36 |
NG_012829.1:g.84474_84475del | |
NG_012829.2:g.109714_109715del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378454.8:c.760-368_760-367del MANE Select | ENSP00000367715.3:n.760-368_760-367del | |
ENST00000378454.7:c.760-368_760-367del | ENSP00000367715.3:n.760-368_760-367del | |
NM_001195610.1:c.760-368_760-367del | NP_001182539.1:n.760-368_760-367del | |
NM_016356.4:c.760-368_760-367del | NP_057440.2:n.760-368_760-367del | |
NM_016356.5:c.760-368_760-367del MANE Select | NP_057440.2:n.760-368_760-367del | |
NM_001195610.2:c.760-368_760-367del | NP_001182539.1:n.760-368_760-367del |