Linked Data
dbSNP Id:
rs774145497
ExAC:
6:39016703 C / CTGGGG
gnomAD v2:
6-39016703-C-CTGGGG
gnomAD v3:
6-39048927-C-CTGGGG
gnomAD v4:
6-39048927-C-CTGGGG
MyVariant Identifiers:
chr6:g.39016703_39016704insTGGGG (hg19)
chr6:g.39048927_39048928insTGGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39048927_39048928insTGGGG , CM000668.2:g.39048927_39048928insTGGGG | GRCh38 |
| NC_000006.11:g.39016703_39016704insTGGGG , CM000668.1:g.39016703_39016704insTGGGG | GRCh37 |
| NC_000006.10:g.39124681_39124682insTGGGG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373256.5:c.78+9_78+10insTGGGG MANE Select | ENSP00000362353.4:n.78+9_78+10insTGGGG | |
| ENST00000373256.4:c.78+9_78+10insTGGGG | ENSP00000362353.4:n.78+9_78+10insTGGGG | |
| NM_002062.3:c.78+9_78+10insTGGGG | NP_002053.3:n.78+9_78+10insTGGGG | |
| XR_926153.1:n.138+9_138+10insTGGGG | ||
| XR_926154.1:n.138+9_138+10insTGGGG | ||
| XR_926155.1:n.138+9_138+10insTGGGG | ||
| NM_002062.4:c.78+9_78+10insTGGGG | NP_002053.3:n.78+9_78+10insTGGGG | |
| NR_136562.1:n.138+9_138+10insTGGGG | ||
| NR_136563.1:n.138+9_138+10insTGGGG | ||
| NM_002062.5:c.78+9_78+10insTGGGG MANE Select | NP_002053.3:n.78+9_78+10insTGGGG | |
| NR_136562.2:n.138+9_138+10insTGGGG | ||
| NR_136563.2:n.138+9_138+10insTGGGG |