HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18786260_18786272del , CM000681.2:g.18786260_18786272del | GRCh38 |
NC_000019.9:g.18897070_18897082del , CM000681.1:g.18897070_18897082del | GRCh37 |
NC_000019.8:g.18758070_18758082del | NCBI36 |
NG_007070.1:g.10038_10050del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1279_1291del MANE Select | ENSP00000222271.2:p.Gly427ThrfsTer? | |
ENST00000222271.6:c.1279_1291del | ENSP00000222271.2:p.Gly427ThrfsTer? | |
ENST00000425807.1:c.1120_1132del | ENSP00000403792.1:p.Gly374ThrfsTer? | |
ENST00000542601.6:c.1180_1192del | ENSP00000439156.2:p.Gly394ThrfsTer? | |
ENST00000612179.1:n.529_541del | ||
NM_000095.2:c.1279_1291del | NP_000086.2:p.Gly427ThrfsTer? | |
NM_000095.3:c.1279_1291del MANE Select | NP_000086.2:p.Gly427ThrfsTer? |