HGVS | Genome Assembly |
---|---|
NC_000019.10:g.45766545_45766546insCTG , CM000681.2:g.45766545_45766546insCTG | GRCh38 |
NC_000019.9:g.46269803_46269804insCTG , CM000681.1:g.46269803_46269804insCTG | GRCh37 |
NC_000019.8:g.50961643_50961644insCTG | NCBI36 |
NG_012745.1:g.7695_7696insAGC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000317578.7:c.1414_1415insAGC MANE Select | ENSP00000316842.4:p.Pro471_Leu472insGln | |
ENST00000317578.6:c.1414_1415insAGC | ENSP00000316842.4:p.Pro471_Leu472insGln | |
ENST00000560160.1:c.587-434_587-433insAGC | ||
ENST00000560168.1:c.*602_*603insAGC | ENSP00000453189.2:n.*602_*603insAGC | |
ENST00000622857.1:c.16-583_16-582insAGC | ENSP00000481365.1:n.16-583_16-582insAGC | |
NM_175875.4:c.1414_1415insAGC | NP_787071.2:p.Pro471_Leu472insGln | |
NM_175875.5:c.1414_1415insAGC MANE Select | NP_787071.3:p.Pro471_Leu472insGln |