HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34793424_34793426del , CM000677.2:g.34793424_34793426del | GRCh38 |
NC_000015.9:g.35085625_35085627del , CM000677.1:g.35085625_35085627del | GRCh37 |
NC_000015.8:g.32872917_32872919del | NCBI36 |
NG_007553.1:g.7303_7305del , LRG_388:g.7303_7305del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000560563.2:n.381_383del (ACTC1) | ||
ENST00000290378.6:c.275_277del (ACTC1) MANE Select | ENSP00000290378.4:p.Phe92del | |
ENST00000647798.1:n.422_424del (ACTC1) | ||
ENST00000648556.1:n.432_434del (ACTC1) | ||
ENST00000650163.1:n.355_357del (ACTC1) | ||
ENST00000290378.4:c.275_277del (ACTC1) | ENSP00000290378.4:p.Phe92del | |
NM_005159.4:c.275_277del , LRG_388t1:c.275_277del (ACTC1) | NP_005150.1:p.Phe92del | |
NR_120329.1:n.299+15993_299+15995del (GJD2-DT) | ||
NM_005159.5:c.275_277del (ACTC1) MANE Select | NP_005150.1:p.Phe92del |