HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7527270_7527274del , CM000681.2:g.7527270_7527274del | GRCh38 |
NC_000019.9:g.7592156_7592160del , CM000681.1:g.7592156_7592160del | GRCh37 |
NC_000019.8:g.7498156_7498160del | NCBI36 |
NG_015806.1:g.9661_9665del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.572-250_572-246del MANE Select | ENSP00000264079.5:n.572-250_572-246del | |
ENST00000264079.10:c.572-250_572-246del | ENSP00000264079.5:n.572-250_572-246del | |
ENST00000394321.9:n.652-250_652-246del | ||
ENST00000598406.1:n.393-250_393-246del | ||
ENST00000601003.1:c.571+344_571+348del | ENSP00000469074.1:n.571+344_571+348del | |
NM_020533.2:c.572-250_572-246del | NP_065394.1:n.572-250_572-246del | |
NM_020533.3:c.572-250_572-246del MANE Select | NP_065394.1:n.572-250_572-246del |