Linked Data
dbSNP Id:
rs1486618927
gnomAD v2:
1-11333845-G-GCCGTATCA
MyVariant Identifiers:
chr1:g.11333845_11333846insCCGTATCA (hg19)
chr1:g.11273788_11273789insCCGTATCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11273788_11273789insCCGTATCA , CM000663.2:g.11273788_11273789insCCGTATCA | GRCh38 |
| NC_000001.10:g.11333845_11333846insCCGTATCA , CM000663.1:g.11333845_11333846insCCGTATCA | GRCh37 |
| NC_000001.9:g.11256432_11256433insCCGTATCA | NCBI36 |
| NG_009443.1:g.5591_5592insCCGTATCA | |
| NG_009443.2:g.5591_5592insCCGTATCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376810.6:c.257_258insCCGTATCA MANE Select | ENSP00000366006.5:p.Cys87ArgfsTer? | |
| ENST00000376804.2:c.257_258insCCGTATCA | ENSP00000366000.1:p.Cys87ArgfsTer? | |
| ENST00000376810.5:c.257_258insCCGTATCA | ENSP00000366006.5:p.Cys87ArgfsTer? | |
| NM_013319.2:c.257_258insCCGTATCA | NP_037451.1:p.Cys87ArgfsTer? | |
| XM_006710590.2:c.257_258insCCGTATCA | XP_006710653.1:p.Cys87ArgfsTer? | |
| XM_011541304.1:c.257_258insCCGTATCA | XP_011539606.1:p.Cys87ArgfsTer? | |
| XR_946616.1:n.591_592insCCGTATCA | ||
| NM_001330349.1:c.257_258insCCGTATCA | NP_001317278.1:p.Cys87ArgfsTer? | |
| NM_001330350.1:c.257_258insCCGTATCA | NP_001317279.1:p.Cys87ArgfsTer? | |
| XR_946616.3:n.591_592insCCGTATCA | ||
| NM_001330349.2:c.257_258insCCGTATCA | NP_001317278.1:p.Cys87ArgfsTer? | |
| NM_001330350.2:c.257_258insCCGTATCA | NP_001317279.1:p.Cys87ArgfsTer? | |
| NM_013319.3:c.257_258insCCGTATCA MANE Select | NP_037451.1:p.Cys87ArgfsTer? |