HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2340500del , CM000678.2:g.2340500del | GRCh38 |
NC_000016.9:g.2390501del , CM000678.1:g.2390501del | GRCh37 |
NC_000016.8:g.2330502del | NCBI36 |
NG_011790.1:g.5249del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.-539+75del (ABCA3) MANE Select | ENSP00000301732.5:n.-539+75del | |
ENST00000640929.1:n.42+1169del (ABCA17P) | ||
ENST00000301732.9:c.-539+75del (ABCA3) | ENSP00000301732.5:n.-539+75del | |
ENST00000382381.7:c.-539+75del (ABCA3) | ENSP00000371818.3:n.-539+75del | |
ENST00000512848.5:n.182+1169del (ABCA17P) | ||
ENST00000563623.5:n.25+75del (ABCA3) | ||
NM_001089.2:c.-539+75del (ABCA3) | NP_001080.2:n.-539+75del | |
NM_001089.3:c.-539+75del (ABCA3) MANE Select | NP_001080.2:n.-539+75del |