Linked Data
dbSNP Id:
rs558859107
ExAC:
1:94883995 C / CGCCGCT
gnomAD v2:
1-94883995-C-CGCCGCT
gnomAD v3:
1-94418439-C-CGCCGCT
gnomAD v4:
1-94418439-C-CGCCGCT
MyVariant Identifiers:
chr1:g.94883995_94883996insGCCGCT (hg19)
chr1:g.94418439_94418440insGCCGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94418444_94418445insTGCCGC , CM000663.2:g.94418444_94418445insTGCCGC | GRCh38 |
| NC_000001.10:g.94884000_94884001insTGCCGC , CM000663.1:g.94884000_94884001insTGCCGC | GRCh37 |
| NC_000001.9:g.94656588_94656589insTGCCGC | NCBI36 |
| NG_008865.1:g.5068_5069insTGCCGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370214.9:c.-35_-34insTGCCGC MANE Select | ENSP00000359233.4:n.-35_-34insTGCCGC | |
| NM_001122674.1:c.-35_-34insTGCCGC | NP_001116146.1:n.-35_-34insTGCCGC | |
| NM_002858.3:c.-35_-34insTGCCGC | NP_002849.1:n.-35_-34insTGCCGC | |
| XM_006710802.2:c.-35_-34insTGCCGC | XP_006710865.2:n.-35_-34insTGCCGC | |
| NM_002858.4:c.-35_-34insTGCCGC MANE Select | NP_002849.1:n.-35_-34insTGCCGC | |
| NM_001122674.2:c.-35_-34insTGCCGC | NP_001116146.1:n.-35_-34insTGCCGC |