HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38367326del , CM000685.2:g.38367326del | GRCh38 |
NC_000023.10:g.38226579del , CM000685.1:g.38226579del | GRCh37 |
NC_000023.9:g.38111523del | NCBI36 |
NG_008471.1:g.19844del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.113del MANE Select | ENSP00000039007.4:p.Lys38ArgfsTer8 | |
ENST00000643344.1:c.113del | ENSP00000496606.1:p.Lys38ArgfsTer8 | |
ENST00000039007.4:c.113del | ENSP00000039007.4:p.Lys38ArgfsTer8 | |
ENST00000465127.1:c.172-298795del | ENSP00000417050.1:n.172-298795del | |
ENST00000488812.1:n.205del | ||
NM_000531.5:c.113del | NP_000522.3:p.Lys38ArgfsTer8 | |
XM_017029556.1:c.113del | XP_016885045.1:p.Lys38ArgfsTer8 | |
NM_000531.6:c.113del MANE Select | NP_000522.3:p.Lys38ArgfsTer8 |