Linked Data
ClinVar Variation Id:
228242
ClinVar RCV Id:
RCV000215018
dbSNP Id:
rs876657633
MyVariant Identifiers:
chr16:g.2350002_2350008delinsTGG (hg19)
chr16:g.2300001_2300007delinsTGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2300001_2300007delinsTGG , CM000678.2:g.2300001_2300007delinsTGG | GRCh38 |
| NC_000016.9:g.2350002_2350008delinsTGG , CM000678.1:g.2350002_2350008delinsTGG | GRCh37 |
| NC_000016.8:g.2290003_2290009delinsTGG | NCBI36 |
| NG_011790.1:g.45740_45746delinsCCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301732.10:c.1609_1611+4delinsCCA | ||
| ENST00000301732.9:c.1609_1611+4delinsCCA | ||
| ENST00000382381.7:c.1435_1437+4delinsCCA | ||
| ENST00000563623.5:n.2172_2174+4delinsCCA | ||
| NM_001089.2:c.1609_1611+4delinsCCA | ||
| NM_001089.3:c.1609_1611+4delinsCCA |