Linked Data
dbSNP Id:
rs780748476
MyVariant Identifiers:
chr16:g.67470315_67470316insGGGGGGGGGGGG (hg19)
chr16:g.67436412_67436413insGGGGGGGGGGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436417_67436418insGGGGGGGGGGGG , CM000678.2:g.67436417_67436418insGGGGGGGGGGGG | GRCh38 |
| NC_000016.9:g.67470320_67470321insGGGGGGGGGGGG , CM000678.1:g.67470320_67470321insGGGGGGGGGGGG | GRCh37 |
| NC_000016.8:g.66027821_66027822insGGGGGGGGGGGG | NCBI36 |
| NG_011482.1:g.49774_49775insCCCCCCCCCCCC | |
| NG_016549.1:g.10285_10286insGGGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.802+31_802+32insGGGGGGGGGGGG MANE Select | ENSP00000316786.5:n.802+31_802+32insGGGGGGGGGGGG | |
| ENST00000326152.5:c.802+31_802+32insGGGGGGGGGGGG | ENSP00000316786.5:n.802+31_802+32insGGGGGGGGGGGG | |
| NM_000196.3:c.802+31_802+32insGGGGGGGGGGGG | NP_000187.3:n.802+31_802+32insGGGGGGGGGGGG | |
| NM_000196.4:c.802+31_802+32insGGGGGGGGGGGG MANE Select | NP_000187.3:n.802+31_802+32insGGGGGGGGGGGG |