HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94775441_94775452del , CM000672.2:g.94775441_94775452del | GRCh38 |
NC_000010.10:g.96535198_96535209del , CM000672.1:g.96535198_96535209del | GRCh37 |
NC_000010.9:g.96525188_96525199del | NCBI36 |
NG_008384.2:g.17736_17747del | |
NG_008384.3:g.17761_17772del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.383_394del MANE Select | ENSP00000360372.3:p.Leu128_Leu131del | |
ENST00000645461.1:n.1436_1447del | ||
ENST00000371321.7:c.383_394del | ENSP00000360372.3:p.Leu128_Leu131del | |
ENST00000464755.1:c.1146_1157del | ENSP00000483243.1:n.1146_1157del | |
ENST00000480405.2:c.383_394del | ENSP00000483847.1:p.Leu128_Leu131del | |
NM_000769.2:c.383_394del | NP_000760.1:p.Leu128_Leu131del | |
NM_000769.4:c.383_394del MANE Select | NP_000760.1:p.Leu128_Leu131del |