Linked Data
dbSNP Id:
rs1565324853
gnomAD v2:
11-116661358-T-TG
gnomAD v4:
11-116790642-T-TG
MyVariant Identifiers:
chr11:g.116661358_116661359insG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116790642_116790643insG , CM000673.2:g.116790642_116790643insG | GRCh38 |
| NC_000011.9:g.116661358_116661359insG , CM000673.1:g.116661358_116661359insG | GRCh37 |
| NC_000011.8:g.116166568_116166569insG | NCBI36 |
| NG_015894.1:g.6778_6779insC | |
| NG_015894.2:g.6778_6779insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227665.9:c.586_587insC MANE Select | ENSP00000227665.4:p.Glu196AlafsTer? | |
| ENST00000433069.2:c.586_587insC | ENSP00000399701.2:p.Glu196AlafsTer? | |
| ENST00000673688.1:c.670_671insC | ENSP00000501141.1:p.Glu224AlafsTer? | |
| ENST00000227665.8:c.586_587insC | ENSP00000227665.4:p.Glu196AlafsTer? | |
| ENST00000542499.5:c.586_587insC | ENSP00000445002.1:p.Glu196AlafsTer? | |
| NM_001166598.1:c.586_587insC | NP_001160070.1:p.Glu196AlafsTer? | |
| NM_052968.4:c.586_587insC | NP_443200.2:p.Glu196AlafsTer? | |
| NM_001166598.2:c.586_587insC | NP_001160070.1:p.Glu196AlafsTer? | |
| NM_001371904.1:c.586_587insC MANE Select | NP_001358833.1:p.Glu196AlafsTer? | |
| NM_052968.5:c.586_587insC | NP_443200.2:p.Glu196AlafsTer? |