HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48380023del , CM000675.2:g.48380023del | GRCh38 |
NC_000013.10:g.48954159del , CM000675.1:g.48954159del | GRCh37 |
NC_000013.9:g.47852160del | NCBI36 |
NG_009009.1:g.81277del , LRG_517:g.81277del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.1390-30del MANE Select | ENSP00000267163.4:n.1390-30del | |
ENST00000650461.1:c.1390-30del | ENSP00000497193.1:n.1390-30del | |
ENST00000267163.4:c.1390-30del | ENSP00000267163.4:n.1390-30del | |
NM_000321.2:c.1390-30del , LRG_517t1:c.1390-30del | NP_000312.2:n.1390-30del | |
XM_011535171.1:c.1129-30del | XP_011533473.1:n.1129-30del | |
XM_011535171.2:c.1129-30del | XP_011533473.1:n.1129-30del | |
NM_000321.3:c.1390-30del MANE Select | NP_000312.2:n.1390-30del |