Linked Data
dbSNP Id:
rs2048713191
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013658_25013659insCGCCGCCGC , CM000685.2:g.25013658_25013659insCGCCGCCGC | GRCh38 |
| NC_000023.10:g.25031775_25031776insCGCCGCCGC , CM000685.1:g.25031775_25031776insCGCCGCCGC | GRCh37 |
| NC_000023.9:g.24941696_24941697insCGCCGCCGC | NCBI36 |
| NG_008281.1:g.7295_7296insGGCGGCGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.341_342insGGCGGCGGC MANE Select | ENSP00000368332.4:p.Ala114_Ala115insAlaAlaAla | |
| ENST00000379044.4:c.341_342insGGCGGCGGC | ENSP00000368332.4:p.Ala114_Ala115insAlaAlaAla | |
| NM_139058.2:c.341_342insGGCGGCGGC | NP_620689.1:p.Ala114_Ala115insAlaAlaAla | |
| NM_139058.3:c.341_342insGGCGGCGGC MANE Select | NP_620689.1:p.Ala114_Ala115insAlaAlaAla |