Linked Data
ClinVar Variation Id:
195018
ClinVar RCV Id:
RCV000175528
dbSNP Id:
rs797044668
MyVariant Identifiers:
chr17:g.78078656_78078657delinsAG (hg19)
chr17:g.80104857_80104858delinsAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80104857_80104858delinsAG , CM000679.2:g.80104857_80104858delinsAG | GRCh38 |
| NC_000017.10:g.78078656_78078657delinsAG , CM000679.1:g.78078656_78078657delinsAG | GRCh37 |
| NC_000017.9:g.75693251_75693252delinsAG | NCBI36 |
| NG_009822.1:g.8302_8303delinsAG , LRG_673:g.8302_8303delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.271_272delinsAG | ENSP00000460543.2:p.Asp91Ser | |
| ENST00000572080.2:c.271_272delinsAG | ENSP00000459972.2:p.Asp91Ser | |
| ENST00000577106.6:c.271_272delinsAG | ENSP00000458306.2:p.Asp91Ser | |
| ENST00000302262.8:c.271_272delinsAG MANE Select | ENSP00000305692.3:p.Asp91Ser | |
| ENST00000302262.7:c.271_272delinsAG | ENSP00000305692.3:p.Asp91Ser | |
| ENST00000390015.7:c.271_272delinsAG | ENSP00000374665.3:p.Asp91Ser | |
| ENST00000570803.5:c.271_272delinsAG | ENSP00000460543.1:p.Asp91Ser | |
| ENST00000577106.5:c.271_272delinsAG | ENSP00000458306.1:p.Asp91Ser | |
| NM_000152.3:c.271_272delinsAG , LRG_673t1:c.271_272delinsAG | NP_000143.2:p.Asp91Ser | |
| NM_001079803.1:c.271_272delinsAG | NP_001073271.1:p.Asp91Ser | |
| NM_001079804.1:c.271_272delinsAG | NP_001073272.1:p.Asp91Ser | |
| XM_005257193.1:c.271_272delinsAG | XP_005257250.1:p.Asp91Ser | |
| XM_005257194.3:c.271_272delinsAG | XP_005257251.1:p.Asp91Ser | |
| NM_000152.4:c.271_272delinsAG | NP_000143.2:p.Asp91Ser | |
| NM_001079803.2:c.271_272delinsAG | NP_001073271.1:p.Asp91Ser | |
| NM_001079804.2:c.271_272delinsAG | NP_001073272.1:p.Asp91Ser | |
| XM_005257193.2:c.271_272delinsAG | XP_005257250.1:p.Asp91Ser | |
| XM_005257194.4:c.271_272delinsAG | XP_005257251.1:p.Asp91Ser | |
| NM_000152.5:c.271_272delinsAG MANE Select | NP_000143.2:p.Asp91Ser | |
| NM_001079803.3:c.271_272delinsAG | NP_001073271.1:p.Asp91Ser | |
| NM_001079804.3:c.271_272delinsAG | NP_001073272.1:p.Asp91Ser |