Linked Data
ClinVar Variation Id:
370033
ClinVar RCV Id:
RCV000408905
dbSNP Id:
rs1057515576
MyVariant Identifiers:
chr3:g.97506835_97506837delinsGAAAA (hg19)
chr3:g.97787991_97787993delinsGAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.97787991_97787993delinsGAAAA , CM000665.2:g.97787991_97787993delinsGAAAA | GRCh38 |
| NC_000003.11:g.97506835_97506837delinsGAAAA , CM000665.1:g.97506835_97506837delinsGAAAA | GRCh37 |
| NC_000003.10:g.98989525_98989527delinsGAAAA | NCBI36 |
| NG_008119.1:g.28241_28243delinsGAAAA | |
| NG_008119.2:g.28241_28243delinsGAAAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000462412.3:c.351_353delinsGAAAA | ENSP00000418740.2:p.Asp117GlufsTer23 | |
| ENST00000631834.2:c.351_353delinsGAAAA | ENSP00000488530.2:p.Asp117GlufsTer23 | |
| ENST00000463745.6:c.351_353delinsGAAAA MANE Select | ENSP00000419619.1:p.Asp117GlufsTer23 | |
| ENST00000335979.6:c.351_353delinsGAAAA | ENSP00000337722.2:p.Asp117GlufsTer23 | |
| ENST00000394206.5:c.351_353delinsGAAAA | ENSP00000377756.1:p.Asp117GlufsTer23 | |
| ENST00000462412.2:c.351_353delinsGAAAA | ENSP00000418740.1:p.Asp117GlufsTer? | |
| ENST00000463745.5:c.351_353delinsGAAAA | ENSP00000419619.1:p.Asp117GlufsTer23 | |
| ENST00000476753.1:c.35_37delinsGAAAA | ||
| ENST00000493990.5:c.351_353delinsGAAAA | ENSP00000418057.1:p.Asp117GlufsTer23 | |
| ENST00000496713.1:n.589_591delinsGAAAA | ||
| ENST00000631834.1:c.213_215delinsGAAAA | ENSP00000488530.1:p.Asp71GlufsTer23 | |
| NM_001278293.1:c.351_353delinsGAAAA | NP_001265222.1:p.Asp117GlufsTer23 | |
| NM_032146.4:c.351_353delinsGAAAA | NP_115522.1:p.Asp117GlufsTer23 | |
| NM_177976.2:c.351_353delinsGAAAA | NP_816931.1:p.Asp117GlufsTer23 | |
| NR_103511.1:n.934_936delinsGAAAA | ||
| XM_006713779.2:c.351_353delinsGAAAA | XP_006713842.1:p.Asp117GlufsTer23 | |
| XM_006713783.2:c.351_353delinsGAAAA | XP_006713846.1:p.Asp117GlufsTer23 | |
| XM_011513230.1:c.351_353delinsGAAAA | XP_011511532.1:p.Asp117GlufsTer23 | |
| XR_924184.1:n.823_825delinsGAAAA | ||
| XR_924185.1:n.929_931delinsGAAAA | ||
| XR_924186.1:n.976_978delinsGAAAA | ||
| XR_924187.1:n.823_825delinsGAAAA | ||
| XR_924188.1:n.877_879delinsGAAAA | ||
| XR_924189.1:n.823_825delinsGAAAA | ||
| NM_001278293.2:c.351_353delinsGAAAA | NP_001265222.1:p.Asp117GlufsTer23 | |
| NM_001323513.1:c.351_353delinsGAAAA | NP_001310442.1:p.Asp117GlufsTer23 | |
| NM_001323514.1:c.351_353delinsGAAAA | NP_001310443.1:p.Asp117GlufsTer23 | |
| NM_032146.5:c.351_353delinsGAAAA | NP_115522.1:p.Asp117GlufsTer23 | |
| NM_177976.3:c.351_353delinsGAAAA | NP_816931.1:p.Asp117GlufsTer23 | |
| NR_136595.1:n.934_936delinsGAAAA | ||
| NR_136597.1:n.835_837delinsGAAAA | ||
| NR_136598.1:n.839_841delinsGAAAA | ||
| NR_136600.1:n.835_837delinsGAAAA | ||
| NR_136601.1:n.835_837delinsGAAAA | ||
| NR_136602.1:n.835_837delinsGAAAA | ||
| XM_017007311.2:c.351_353delinsGAAAA | XP_016862800.1:p.Asp117GlufsTer23 | |
| XM_017007312.2:c.351_353delinsGAAAA | XP_016862801.1:p.Asp117GlufsTer23 | |
| XR_001740319.2:n.2775_2777delinsGAAAA | ||
| XR_001740321.2:n.2775_2777delinsGAAAA | ||
| XR_002959599.1:n.2834_2836delinsGAAAA | ||
| XR_924184.3:n.2775_2777delinsGAAAA | ||
| XR_924185.3:n.2874_2876delinsGAAAA | ||
| XR_924186.3:n.2933_2935delinsGAAAA | ||
| XR_924187.3:n.2775_2777delinsGAAAA | ||
| XR_924188.3:n.2834_2836delinsGAAAA | ||
| XR_924189.3:n.2775_2777delinsGAAAA | ||
| NM_001278293.3:c.351_353delinsGAAAA MANE Select | NP_001265222.1:p.Asp117GlufsTer23 | |
| NM_001323513.2:c.351_353delinsGAAAA | NP_001310442.1:p.Asp117GlufsTer23 | |
| NM_001323514.2:c.351_353delinsGAAAA | NP_001310443.1:p.Asp117GlufsTer23 | |
| NR_103511.2:n.697_699delinsGAAAA | ||
| NR_136595.2:n.697_699delinsGAAAA | ||
| NR_136597.2:n.598_600delinsGAAAA | ||
| NR_136598.2:n.602_604delinsGAAAA | ||
| NR_136600.2:n.598_600delinsGAAAA | ||
| NR_136601.2:n.598_600delinsGAAAA | ||
| NR_136602.2:n.598_600delinsGAAAA | ||
| NR_103511.3:n.697_699delinsGAAAA | ||
| NR_136600.3:n.598_600delinsGAAAA | ||
| NR_136601.3:n.598_600delinsGAAAA | ||
| NR_136602.3:n.598_600delinsGAAAA |