HGVS | Genome Assembly |
---|---|
NC_000012.12:g.4912618_4912619insAA , CM000674.2:g.4912618_4912619insAA | GRCh38 |
NC_000012.11:g.5021784_5021785insAA , CM000674.1:g.5021784_5021785insAA | GRCh37 |
NC_000012.10:g.4892045_4892046insAA | NCBI36 |
NG_011815.1:g.7712_7713insAA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382545.5:c.1240_1241insAA MANE Select | ENSP00000371985.3:p.Phe414Ter | |
ENST00000543874.3:n.105+2146_105+2147insAA | ||
ENST00000639306.1:c.1078_1079insAA | ENSP00000492506.1:p.Phe360Ter | |
ENST00000639680.1:c.76+352_76+353insAA | ||
ENST00000382545.3:c.1240_1241insAA | ENSP00000371985.3:p.Phe414Ter | |
ENST00000541095.1:n.105+2146_105+2147insAA | ||
ENST00000543874.2:n.96+2146_96+2147insAA | ||
NM_000217.2:c.1240_1241insAA | NP_000208.2:p.Phe414Ter | |
NM_000217.3:c.1240_1241insAA MANE Select | NP_000208.2:p.Phe414Ter |