HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94981222dup , CM000672.2:g.94981222dup | GRCh38 |
NC_000010.10:g.96740979dup , CM000672.1:g.96740979dup | GRCh37 |
NC_000010.9:g.96730969dup | NCBI36 |
NG_008385.1:g.47565dup | |
NG_008385.2:g.48065dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.1001dup MANE Select | ENSP00000260682.6:p.Asn334LysfsTer27 | |
ENST00000643112.1:c.*10dup | ENSP00000496202.1:n.*10dup | |
ENST00000260682.6:c.1001dup | ENSP00000260682.6:p.Asn334LysfsTer27 | |
NM_000771.3:c.1001dup | NP_000762.2:p.Asn334LysfsTer27 | |
NM_000771.4:c.1001dup MANE Select | NP_000762.2:p.Asn334LysfsTer27 |