Linked Data
ClinVar Variation Id:
371432
ClinVar RCV Id:
RCV000409598
dbSNP Id:
rs1057517266
MyVariant Identifiers:
chr15:g.91304325_91304328delinsGGC (hg19)
chr15:g.90761095_90761098delinsGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90761095_90761098delinsGGC , CM000677.2:g.90761095_90761098delinsGGC | GRCh38 |
| NC_000015.9:g.91304325_91304328delinsGGC , CM000677.1:g.91304325_91304328delinsGGC | GRCh37 |
| NC_000015.8:g.89105329_89105332delinsGGC | NCBI36 |
| NG_007272.1:g.48724_48727delinsGGC , LRG_20:g.48724_48727delinsGGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355112.8:c.1722_1725delinsGGC MANE Select | ENSP00000347232.3:p.Ala576ProfsTer? | |
| ENST00000648453.1:c.1722_1725delinsGGC | ENSP00000497646.1:p.Ala576ProfsTer? | |
| ENST00000680772.1:c.1722_1725delinsGGC | ENSP00000506117.1:p.Ala576ProfsTer? | |
| ENST00000681142.1:c.1722_1725delinsGGC | ENSP00000506682.1:p.Ala576ProfsTer? | |
| ENST00000355112.7:c.1722_1725delinsGGC | ENSP00000347232.3:p.Ala576ProfsTer? | |
| ENST00000559724.5:c.*646_*649delinsGGC | ENSP00000453359.1:n.*646_*649delinsGGC | |
| ENST00000560509.5:c.1722_1725delinsGGC | ENSP00000454158.1:p.Ala576ProfsTer? | |
| NM_000057.3:c.1722_1725delinsGGC | NP_000048.1:p.Ala576ProfsTer? | |
| NM_001287246.1:c.1722_1725delinsGGC | NP_001274175.1:p.Ala576ProfsTer? | |
| NM_001287247.1:c.1722_1725delinsGGC | NP_001274176.1:p.Ala576ProfsTer? | |
| NM_001287248.1:c.597_600delinsGGC | NP_001274177.1:p.Ala201ProfsTer? | |
| XM_011521881.1:c.408_411delinsGGC | XP_011520183.1:p.Ala138ProfsTer? | |
| XM_011521882.1:c.1722_1725delinsGGC | XP_011520184.1:p.Ala576ProfsTer? | |
| XM_011521881.2:c.408_411delinsGGC | XP_011520183.1:p.Ala138ProfsTer? | |
| XM_011521882.3:c.1722_1725delinsGGC | XP_011520184.1:p.Ala576ProfsTer? | |
| NM_000057.4:c.1722_1725delinsGGC MANE Select | NP_000048.1:p.Ala576ProfsTer? | |
| NM_001287246.2:c.1722_1725delinsGGC | NP_001274175.1:p.Ala576ProfsTer? | |
| NM_001287247.2:c.1722_1725delinsGGC | NP_001274176.1:p.Ala576ProfsTer? | |
| NM_001287248.2:c.597_600delinsGGC | NP_001274177.1:p.Ala201ProfsTer? |