Linked Data
ClinVar Variation Id:
218942
dbSNP Id:
rs1554391082
MyVariant Identifiers:
chr7:g.131241029_131241030insGGGGCGAC (hg19)
chr7:g.131556270_131556271insGGGGCGAC (hg38)
PubMed:
PMID:26864383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.131556272_131556273insGGCGACGG , CM000669.2:g.131556272_131556273insGGCGACGG | GRCh38 |
| NC_000007.13:g.131241031_131241032insGGCGACGG , CM000669.1:g.131241031_131241032insGGCGACGG | GRCh37 |
| NC_000007.12:g.130891571_130891572insGGCGACGG | NCBI36 |
| NG_042104.1:g.5347_5348insGTCGCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378555.8:c.89_90insGTCGCCCC MANE Select | ENSP00000367817.3:p.Gln32ProfsTer? | |
| ENST00000322985.9:c.89_90insGTCGCCCC | ENSP00000319782.9:p.Gln32ProfsTer? | |
| ENST00000378555.7:c.89_90insGTCGCCCC | ENSP00000367817.3:p.Gln32ProfsTer? | |
| ENST00000446198.5:c.89_90insGTCGCCCC | ENSP00000390152.1:p.Gln32ProfsTer? | |
| ENST00000465001.1:n.291+854_291+855insGTCGCCCC | ||
| NM_001018111.2:c.89_90insGTCGCCCC | NP_001018121.1:p.Gln32ProfsTer? | |
| NM_005397.3:c.89_90insGTCGCCCC | NP_005388.2:p.Gln32ProfsTer? | |
| NM_001018111.3:c.89_90insGTCGCCCC MANE Select | NP_001018121.1:p.Gln32ProfsTer? | |
| NM_005397.4:c.89_90insGTCGCCCC | NP_005388.2:p.Gln32ProfsTer? |