Linked Data
ClinVar Variation Id:
2360
dbSNP Id:
rs587776538
MyVariant Identifiers:
chr1:g.216595438_216595439insGATC (hg19)
chr1:g.216422096_216422097insGATC (hg38)
PubMed:
PMID:17296898
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216422097_216422098insATCG , CM000663.2:g.216422097_216422098insATCG | GRCh38 |
| NC_000001.10:g.216595439_216595440insATCG , CM000663.1:g.216595439_216595440insATCG | GRCh37 |
| NC_000001.9:g.214662062_214662063insATCG | NCBI36 |
| NG_009497.1:g.6300_6301insGATC | |
| NG_009497.2:g.6352_6353insGATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.240_241insGATC MANE Select | ENSP00000305941.3:p.Gln81AspfsTer28 | |
| ENST00000674083.1:c.240_241insGATC | ENSP00000501296.1:p.Gln81AspfsTer28 | |
| ENST00000307340.7:c.240_241insGATC | ENSP00000305941.3:p.Gln81AspfsTer28 | |
| ENST00000366942.3:c.240_241insGATC | ENSP00000355909.3:p.Gln81AspfsTer28 | |
| NM_007123.5:c.240_241insGATC | NP_009054.5:p.Gln81AspfsTer28 | |
| NM_206933.2:c.240_241insGATC | NP_996816.2:p.Gln81AspfsTer28 | |
| NM_206933.3:c.240_241insGATC | NP_996816.2:p.Gln81AspfsTer28 | |
| NM_007123.6:c.240_241insGATC | NP_009054.6:p.Gln81AspfsTer28 | |
| NM_206933.4:c.240_241insGATC MANE Select | NP_996816.3:p.Gln81AspfsTer28 |