Linked Data
ClinVar Variation Id:
235185
ClinVar RCV Id:
RCV000224496
dbSNP Id:
rs878853267
PubMed:
PMID:27213289
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98076958dup , CM000671.2:g.98076958dup | GRCh38 |
| NC_000009.11:g.100839240dup , CM000671.1:g.100839240dup | GRCh37 |
| NC_000009.10:g.99879061dup | NCBI36 |
| NG_052789.1:g.25282dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000210444.6:c.389dup (NANS) MANE Select | ENSP00000210444.5:p.Lys131GlnfsTer8 | |
| ENST00000210444.5:c.389dup (NANS) | ENSP00000210444.5:p.Lys131GlnfsTer8 | |
| ENST00000375098.7:c.*29-7267dup (TRIM14) | ENSP00000364239.3:n.*29-7267dup | |
| ENST00000415280.1:c.-166dup (NANS) | ENSP00000404107.1:n.-166dup | |
| ENST00000461452.1:n.2316dup (NANS) | ||
| ENST00000495319.1:n.593dup (NANS) | ||
| NM_018946.3:c.389dup (NANS) | NP_061819.2:p.Lys131GlnfsTer8 | |
| XM_011518787.1:c.41dup (NANS) | XP_011517089.1:p.Lys15GlnfsTer8 | |
| XM_011518788.1:c.13dup (NANS) | XP_011517090.1:p.Ser5PhefsTer? | |
| XM_011518787.2:c.41dup (NANS) | XP_011517089.1:p.Lys15GlnfsTer8 | |
| XM_011518788.2:c.13dup (NANS) | XP_011517090.1:p.Ser5PhefsTer? | |
| XM_017014811.1:c.-166dup (NANS) | XP_016870300.1:n.-166dup | |
| XM_017015352.2:c.*29-4788dup (TRIM14) | XP_016870841.1:n.*29-4788dup | |
| XM_024447574.1:c.41dup (NANS) | XP_024303342.1:p.Lys15GlnfsTer8 | |
| NM_018946.4:c.389dup (NANS) MANE Select | NP_061819.2:p.Lys131GlnfsTer8 |