Linked Data
ClinVar Variation Id:
142556
dbSNP Id:
rs587782543
gnomAD v3:
5-132591957-C-CA
gnomAD v4:
5-132591957-C-CA
MyVariant Identifiers:
chr5:g.131927655dup (hg19)
chr5:g.131927649_131927650insA (hg19)
chr5:g.132591963dup (hg38)
chr5:g.132591958dupA (hg38)
chr5:g.132591957_132591958insA (hg38)
PubMed:
PMID:24763289
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132591963dup , CM000667.2:g.132591963dup | GRCh38 |
| NC_000005.9:g.131927655dup , CM000667.1:g.131927655dup | GRCh37 |
| NC_000005.8:g.131955554dup | NCBI36 |
| NG_021151.1:g.40040dup | |
| NG_021151.2:g.39987dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.1722dup MANE Select | ENSP00000368100.4:p.Gln575ThrfsTer3 | |
| ENST00000638452.2:c.1425dup | ENSP00000492349.2:p.Gln476ThrfsTer3 | |
| ENST00000638504.1:n.1408dup | ||
| ENST00000638568.2:c.1425dup | ENSP00000491158.2:p.Gln476ThrfsTer3 | |
| ENST00000639899.1:n.2241dup | ||
| ENST00000640655.2:c.1425dup | ENSP00000491596.2:p.Gln476ThrfsTer3 | |
| ENST00000651160.1:c.1722dup | ENSP00000498829.1:p.Gln575ThrfsTer3 | |
| ENST00000651541.1:c.1425dup | ENSP00000498795.1:p.Gln476ThrfsTer3 | |
| ENST00000651658.1:n.2149dup | ||
| ENST00000651723.1:c.*1805dup | ENSP00000498237.1:n.*1805dup | |
| ENST00000652016.1:c.1722dup | ENSP00000498267.1:p.Gln575ThrfsTer3 | |
| ENST00000652485.1:c.1755dup | ENSP00000498973.1:p.Gln586ThrfsTer3 | |
| ENST00000378823.7:c.1722dup | ENSP00000368100.4:p.Gln575ThrfsTer3 | |
| ENST00000423956.5:c.1635+557dup | ENSP00000390971.1:n.1635+557dup | |
| ENST00000434288.1:c.217dup | ||
| ENST00000453394.5:c.1539dup | ENSP00000400049.1:p.Gln514ThrfsTer3 | |
| ENST00000533482.5:c.*1348dup | ENSP00000431225.1:n.*1348dup | |
| NM_005732.3:c.1722dup | NP_005723.2:p.Gln575ThrfsTer3 | |
| NM_005732.4:c.1722dup MANE Select | NP_005723.2:p.Gln575ThrfsTer3 |