MyVariant.info:
GRCh37
chr3:g.33058214_33058224dup
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33016725_33016735dup , CM000665.2:g.33016725_33016735dup | GRCh38 |
| NC_000003.11:g.33058217_33058227dup , CM000665.1:g.33058217_33058227dup | GRCh37 |
| NC_000003.10:g.33033221_33033231dup | NCBI36 |
| NG_009005.1:g.85471_85481dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1456_1466dup MANE Select | ENSP00000306920.4:p.Ile489MetfsTer15 | |
| ENST00000307363.9:c.1456_1466dup | ENSP00000306920.4:p.Ile489MetfsTer15 | |
| ENST00000307377.12:c.1063_1073dup | ENSP00000305920.8:p.Ile358MetfsTer15 | |
| ENST00000399402.7:c.1366_1376dup | ENSP00000382333.2:p.Ile459MetfsTer15 | |
| ENST00000461475.5:n.555_565dup | ||
| ENST00000467571.5:n.493_503dup | ||
| ENST00000497796.5:n.708_718dup | ||
| NM_000404.2:c.1456_1466dup | NP_000395.2:p.Ile489MetfsTer15 | |
| NM_000404.3:c.1456_1466dup | NP_000395.2:p.Ile489MetfsTer15 | |
| NM_001079811.1:c.1366_1376dup | NP_001073279.1:p.Ile459MetfsTer15 | |
| NM_001079811.2:c.1366_1376dup | NP_001073279.1:p.Ile459MetfsTer15 | |
| NM_001135602.1:c.1063_1073dup | NP_001129074.1:p.Ile358MetfsTer15 | |
| NM_001135602.2:c.1063_1073dup | NP_001129074.1:p.Ile358MetfsTer15 | |
| NM_001317040.1:c.1600_1610dup | NP_001303969.1:p.Ile537MetfsTer15 | |
| NM_000404.4:c.1456_1466dup MANE Select | NP_000395.3:p.Ile489MetfsTer15 | |
| NM_001079811.3:c.1366_1376dup | NP_001073279.2:p.Ile459MetfsTer15 | |
| NM_001135602.3:c.1063_1073dup | NP_001129074.2:p.Ile358MetfsTer15 | |
| NM_001317040.2:c.1600_1610dup | NP_001303969.2:p.Ile537MetfsTer15 | |
| NM_001393580.1:c.1456_1466dup | NP_001380509.1:p.Ile489MetfsTer15 |