Linked Data
dbSNP Id:
rs1559998026
gnomAD v2:
3-132399687-G-GAGAC
gnomAD v3:
3-132680843-G-GAGAC
gnomAD v4:
3-132680843-G-GAGAC
MyVariant Identifiers:
chr3:g.132399687_132399688insAGAC (hg19)
chr3:g.132680843_132680844insAGAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132680847_132680850dup , CM000665.2:g.132680847_132680850dup | GRCh38 |
| NC_000003.11:g.132399691_132399694dup , CM000665.1:g.132399691_132399694dup | GRCh37 |
| NC_000003.10:g.133882381_133882384dup | NCBI36 |
| NG_008130.1:g.46586_46589dup | |
| NG_008130.2:g.46586_46589dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337331.10:c.*1063_*1066dup (NPHP3) MANE Select | ENSP00000338766.5:n.*1063_*1066dup | |
| ENST00000471702.2:c.*1980+1067_*1980+1070dup (NPHP3-ACAD11) | ENSP00000419763.1:n.*1980+1067_*1980+1070dup | |
| ENST00000474871.5:n.4255_4258dup (NPHP3) | ||
| ENST00000632629.1:c.636+1067_636+1070dup (NPHP3-ACAD11) | ||
| NM_153240.4:c.*1063_*1066dup (NPHP3) | NP_694972.3:n.*1063_*1066dup | |
| NR_037804.1:n.3995+1067_3995+1070dup (NPHP3-ACAD11) | ||
| NM_153240.5:c.*1063_*1066dup (NPHP3) MANE Select | NP_694972.3:n.*1063_*1066dup |