Linked Data
dbSNP Id:
rs138293942
MyVariant Identifiers:
chr8:g.37623075_37623076insGGGGGG (hg19)
chr8:g.37765557_37765558insGGGGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37765559_37765560insGGGGGG , CM000670.2:g.37765559_37765560insGGGGGG | GRCh38 |
| NC_000008.10:g.37623077_37623078insGGGGGG , CM000670.1:g.37623077_37623078insGGGGGG | GRCh37 |
| NC_000008.9:g.37742235_37742236insGGGGGG | NCBI36 |
| NG_053030.1:g.8807_8808insGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328195.8:c.133_134insGGGGGG MANE Select | ENSP00000333551.3:p.Ala44_Val45insGlyGly | |
| ENST00000328195.7:c.133_134insGGGGGG | ENSP00000333551.3:p.Ala44_Val45insGlyGly | |
| ENST00000518036.5:c.133_134insGGGGGG | ENSP00000428005.1:p.Ala44_Val45insGlyGly | |
| ENST00000520073.5:n.198_199insGGGGGG | ||
| ENST00000523187.5:c.-24_-23insGGGGGG | ENSP00000427886.1:n.-24_-23insGGGGGG | |
| ENST00000523358.5:c.133_134insGGGGGG | ENSP00000427778.1:p.Ala44_Val45insGlyGly | |
| ENST00000523994.1:n.138_139insGGGGGG | ||
| NM_007198.3:c.133_134insGGGGGG | NP_009129.1:p.Ala44_Val45insGlyGly | |
| NM_001349346.1:c.133_134insGGGGGG | NP_001336275.1:p.Ala44_Val45insGlyGly | |
| NM_001349347.1:c.133_134insGGGGGG | NP_001336276.1:p.Ala44_Val45insGlyGly | |
| NM_001349348.1:c.-24_-23insGGGGGG | NP_001336277.1:n.-24_-23insGGGGGG | |
| NM_001349349.1:c.238_239insGGGGGG | NP_001336278.1:p.Ala79_Val80insGlyGly | |
| NM_007198.4:c.133_134insGGGGGG MANE Select | NP_009129.1:p.Ala44_Val45insGlyGly | |
| NM_001349346.2:c.133_134insGGGGGG | NP_001336275.1:p.Ala44_Val45insGlyGly | |
| NM_001349347.2:c.133_134insGGGGGG | NP_001336276.1:p.Ala44_Val45insGlyGly | |
| NM_001349348.2:c.-24_-23insGGGGGG | NP_001336277.1:n.-24_-23insGGGGGG |