Linked Data
dbSNP Id:
rs1446960824
gnomAD v2:
9-6558565-C-CCTACCCCGGG
MyVariant Identifiers:
chr9:g.6558565_6558566insCTACCCCGGG (hg19)
chr9:g.6558565_6558566insCTACCCCGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558565_6558566insCTACCCCGGG , CM000671.2:g.6558565_6558566insCTACCCCGGG | GRCh38 |
| NC_000009.11:g.6558565_6558566insCTACCCCGGG , CM000671.1:g.6558565_6558566insCTACCCCGGG | GRCh37 |
| NC_000009.10:g.6548565_6548566insCTACCCCGGG | NCBI36 |
| NG_016397.1:g.92127_92128insCCCGGGGTAG , LRG_643:g.92127_92128insCCCGGGGTAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2045_2046insCCCGGGGTAG MANE Select | ENSP00000370737.4:p.Lys682AsnfsTer4 | |
| ENST00000460457.2:n.205_206insCCCGGGGTAG | ||
| ENST00000638233.1:n.480_481insCCCGGGGTAG | ||
| ENST00000638661.1:c.245_246insCCCGGGGTAG | ENSP00000491369.1:p.Lys82AsnfsTer4 | |
| ENST00000638694.1:n.232_233insCCCGGGGTAG | ||
| ENST00000639318.1:c.245_246insCCCGGGGTAG | ENSP00000491932.1:p.Lys82AsnfsTer4 | |
| ENST00000639364.1:n.1745_1746insCCCGGGGTAG | ||
| ENST00000639443.1:n.1613_1614insCCCGGGGTAG | ||
| ENST00000639954.1:n.1753_1754insCCCGGGGTAG | ||
| ENST00000640208.1:c.245_246insCCCGGGGTAG | ENSP00000491895.1:p.Lys82AsnfsTer4 | |
| ENST00000640505.1:n.284_285insCCCGGGGTAG | ||
| ENST00000640592.1:n.1928_1929insCCCGGGGTAG | ||
| ENST00000321612.6:c.2045_2046insCCCGGGGTAG | ENSP00000370737.3:p.Lys682AsnfsTer4 | |
| ENST00000460457.1:n.184_185insCCCGGGGTAG | ||
| NM_000170.2:c.2045_2046insCCCGGGGTAG , LRG_643t1:c.2045_2046insCCCGGGGTAG | NP_000161.2:p.Lys682AsnfsTer4 | |
| NM_000170.3:c.2045_2046insCCCGGGGTAG MANE Select | NP_000161.2:p.Lys682AsnfsTer4 |