Linked Data
ClinVar Variation Id:
2147452
ClinVar RCV Id:
RCV003077200
dbSNP Id:
rs770800988
ExAC:
3:142234278 CAA / C
gnomAD v2:
3-142234278-CAA-C
gnomAD v3:
3-142515436-CAA-C
gnomAD v4:
3-142515436-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142515438_142515439del , CM000665.2:g.142515438_142515439del | GRCh38 |
| NC_000003.11:g.142234280_142234281del , CM000665.1:g.142234280_142234281del | GRCh37 |
| NC_000003.10:g.143716970_143716971del | NCBI36 |
| NG_008951.1:g.68389_68390del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350721.9:c.4460_4461del MANE Select | ENSP00000343741.4:p.Phe1487CysfsTer18 | |
| ENST00000653868.1:n.4489_4490del | ||
| ENST00000656590.1:c.3250_3251del | ||
| ENST00000661310.1:c.4268_4269del | ENSP00000499589.1:p.Phe1423CysfsTer18 | |
| ENST00000350721.8:c.4460_4461del | ENSP00000343741.4:p.Phe1487CysfsTer18 | |
| NM_001184.3:c.4460_4461del | NP_001175.2:p.Phe1487CysfsTer18 | |
| XM_011512924.1:c.4466_4467del | XP_011511226.1:p.Phe1489CysfsTer18 | |
| XM_011512925.1:c.4274_4275del | XP_011511227.1:p.Phe1425CysfsTer18 | |
| XM_011512926.1:c.4466_4467del | XP_011511228.1:p.Phe1489CysfsTer18 | |
| XM_011512927.1:c.4466_4467del | XP_011511229.1:p.Phe1489CysfsTer18 | |
| XR_924147.1:n.4555_4556del | ||
| XR_924148.1:n.4555_4556del | ||
| XR_924149.1:n.4555_4556del | ||
| NM_001354579.1:c.4268_4269del | NP_001341508.1:p.Phe1423CysfsTer18 | |
| XR_001740179.2:n.4549_4550del | ||
| XR_001740180.2:n.4555_4556del | ||
| XR_001740181.2:n.4555_4556del | ||
| XR_001740182.1:n.4555_4556del | ||
| XR_002959543.1:n.4555_4556del | ||
| XR_924148.2:n.4555_4556del | ||
| NM_001184.4:c.4460_4461del MANE Select | NP_001175.2:p.Phe1487CysfsTer18 | |
| NM_001354579.2:c.4268_4269del | NP_001341508.1:p.Phe1423CysfsTer18 |