HGVS | Genome Assembly |
---|---|
NC_000019.10:g.10115441_10115447del , CM000681.2:g.10115441_10115447del | GRCh38 |
NC_000019.9:g.10226117_10226123del , CM000681.1:g.10226117_10226123del | GRCh37 |
NC_000019.8:g.10087117_10087123del | NCBI36 |
NG_047007.1:g.8921_8927del | |
NG_051197.1:g.9478_9484del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253108.9:c.947+32_947+38del MANE Select | ENSP00000253108.3:n.947+32_947+38del | |
ENST00000253108.8:c.947+32_947+38del | ENSP00000253108.3:n.947+32_947+38del | |
ENST00000590158.1:n.966+32_966+38del | ||
ENST00000593054.5:c.341+32_341+38del | ENSP00000467187.1:n.341+32_341+38del | |
NM_003755.3:c.947+32_947+38del | NP_003746.2:n.947+32_947+38del | |
NM_003755.4:c.947+32_947+38del | NP_003746.2:n.947+32_947+38del | |
NM_003755.5:c.947+32_947+38del MANE Select | NP_003746.2:n.947+32_947+38del |