HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1416123_1416125del , CM000667.2:g.1416123_1416125del | GRCh38 |
NC_000005.9:g.1416238_1416240del , CM000667.1:g.1416238_1416240del | GRCh37 |
NC_000005.8:g.1469238_1469240del | NCBI36 |
NG_015885.1:g.34308_34310del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.1008_1010del MANE Select | ENSP00000270349.9:p.Asn336del | |
ENST00000270349.11:c.1008_1010del | ENSP00000270349.9:p.Asn336del | |
ENST00000511750.1:n.458_460del | ||
NM_001044.4:c.1008_1010del | NP_001035.1:p.Asn336del | |
NM_001044.5:c.1008_1010del MANE Select | NP_001035.1:p.Asn336del |