HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7527271_7527275del , CM000681.2:g.7527271_7527275del | GRCh38 |
NC_000019.9:g.7592157_7592161del , CM000681.1:g.7592157_7592161del | GRCh37 |
NC_000019.8:g.7498157_7498161del | NCBI36 |
NG_015806.1:g.9662_9666del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.572-249_572-245del MANE Select | ENSP00000264079.5:n.572-249_572-245del | |
ENST00000264079.10:c.572-249_572-245del | ENSP00000264079.5:n.572-249_572-245del | |
ENST00000394321.9:n.652-249_652-245del | ||
ENST00000598406.1:n.393-249_393-245del | ||
ENST00000601003.1:c.571+345_571+349del | ENSP00000469074.1:n.571+345_571+349del | |
NM_020533.2:c.572-249_572-245del | NP_065394.1:n.572-249_572-245del | |
NM_020533.3:c.572-249_572-245del MANE Select | NP_065394.1:n.572-249_572-245del |