Linked Data
dbSNP Id:
rs757977872
ExAC:
3:165548095 A / AGATCAC
MyVariant Identifiers:
chr3:g.165548095_165548096insGATCAC (hg19)
chr3:g.165830307_165830308insGATCAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830307_165830308insGATCAC , CM000665.2:g.165830307_165830308insGATCAC | GRCh38 |
| NC_000003.11:g.165548095_165548096insGATCAC , CM000665.1:g.165548095_165548096insGATCAC | GRCh37 |
| NC_000003.10:g.167030789_167030790insGATCAC | NCBI36 |
| NG_009031.1:g.12158_12159insGTGATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.726_727insGTGATC MANE Select | ENSP00000264381.3:p.His242_Ser243insValIle | |
| ENST00000264381.7:c.726_727insGTGATC | ENSP00000264381.3:p.His242_Ser243insValIle | |
| ENST00000479451.5:c.107+7006_107+7007insGTGATC | ENSP00000418325.1:n.107+7006_107+7007insGTGATC | |
| ENST00000482958.1:c.726_727insGTGATC | ENSP00000419804.1:p.His242_Ser243insValIle | |
| ENST00000488954.1:c.107+7006_107+7007insGTGATC | ENSP00000418504.1:n.107+7006_107+7007insGTGATC | |
| ENST00000497011.5:c.726_727insGTGATC | ENSP00000419505.1:p.His242_Ser243insValIle | |
| NM_000055.2:c.726_727insGTGATC | NP_000046.1:p.His242_Ser243insValIle | |
| XM_005247685.1:c.849_850insGTGATC | XP_005247742.1:p.His283_Ser284insValIle | |
| NM_000055.3:c.726_727insGTGATC | NP_000046.1:p.His242_Ser243insValIle | |
| NR_137635.1:n.159+7006_159+7007insGTGATC | ||
| NR_137636.1:n.893_894insGTGATC | ||
| NM_000055.4:c.726_727insGTGATC MANE Select | NP_000046.1:p.His242_Ser243insValIle | |
| NR_137635.2:n.110+7006_110+7007insGTGATC | ||
| NR_137636.2:n.844_845insGTGATC |