Linked Data
dbSNP Id:
rs1196361612
MyVariant Identifiers:
chr10:g.90695244_90695245insTTGT (hg19)
chr10:g.88935487_88935488insTTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88935488_88935491dup , CM000672.2:g.88935488_88935491dup | GRCh38 |
| NC_000010.10:g.90695245_90695248dup , CM000672.1:g.90695245_90695248dup | GRCh37 |
| NC_000010.9:g.90685225_90685228dup | NCBI36 |
| NG_011541.1:g.60900_60903dup , LRG_781:g.60900_60903dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415557.2:c.991-125_991-122dup (ACTA2) | ENSP00000396730.2:n.991-125_991-122dup | |
| ENST00000458159.6:c.991-125_991-122dup (ACTA2) | ENSP00000398239.2:n.991-125_991-122dup | |
| ENST00000480297.6:n.2587-125_2587-122dup (ACTA2) | ||
| ENST00000224784.10:c.991-125_991-122dup (ACTA2) MANE Select | ENSP00000224784.6:n.991-125_991-122dup | |
| ENST00000371927.7:c.1254+13052_1254+13055dup (STAMBPL1) | ENSP00000360995.3:n.1254+13052_1254+13055dup | |
| ENST00000458208.5:c.991-125_991-122dup (ACTA2) | ENSP00000402373.1:n.991-125_991-122dup | |
| NM_001141945.1:c.991-125_991-122dup , LRG_781t2:c.991-125_991-122dup (ACTA2) | NP_001135417.1:n.991-125_991-122dup | |
| NM_001613.2:c.991-125_991-122dup , LRG_781t1:c.991-125_991-122dup (ACTA2) | NP_001604.1:n.991-125_991-122dup | |
| NR_125373.1:n.1113_1116dup (ACTA2-AS1) | ||
| XM_011540016.1:c.991-125_991-122dup (ACTA2) | XP_011538318.1:n.991-125_991-122dup | |
| NM_001141945.2:c.991-125_991-122dup (ACTA2) | NP_001135417.1:n.991-125_991-122dup | |
| NM_001320855.1:c.991-125_991-122dup (ACTA2) | NP_001307784.1:n.991-125_991-122dup | |
| NM_001613.3:c.991-125_991-122dup (ACTA2) | NP_001604.1:n.991-125_991-122dup | |
| NM_001613.4:c.991-125_991-122dup (ACTA2) MANE Select | NP_001604.1:n.991-125_991-122dup |