HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8075448_8075459del , CM000679.2:g.8075448_8075459del | GRCh38 |
NC_000017.10:g.7978766_7978777del , CM000679.1:g.7978766_7978777del | GRCh37 |
NC_000017.9:g.7919491_7919502del | NCBI36 |
NG_007099.1:g.17245_17256del | |
NG_007099.2:g.17258_17269del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647874.1:c.1654+136_1654+147del MANE Select | ENSP00000497784.1:n.1654+136_1654+147del | |
ENST00000649809.1:c.718+136_718+147del | ENSP00000496845.1:n.718+136_718+147del | |
ENST00000319144.4:c.1654+136_1654+147del | ENSP00000315167.4:n.1654+136_1654+147del | |
ENST00000577351.5:n.479+716_479+727del | ||
NM_001139.2:c.1654+136_1654+147del | NP_001130.1:n.1654+136_1654+147del | |
NM_001139.3:c.1654+136_1654+147del MANE Select | NP_001130.1:n.1654+136_1654+147del |