Linked Data
ClinVar Variation Id:
140899
ClinVar RCV Id:
RCV000129139
dbSNP Id:
rs587781355
ExAC:
5:131915038 AGT / A
gnomAD v2:
5-131915038-AGT-A
MyVariant Identifiers:
chr5:g.131915042_131915043del (hg19)
chr5:g.131915039_131915040del (hg19)
chr5:g.132579350_132579351del (hg38)
chr5:g.132579347_132579348del (hg38)
PubMed:
PMID:24763289
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132579350_132579351del , CM000667.2:g.132579350_132579351del | GRCh38 |
| NC_000005.9:g.131915042_131915043del , CM000667.1:g.131915042_131915043del | GRCh37 |
| NC_000005.8:g.131942941_131942942del | NCBI36 |
| NG_021151.1:g.27427_27428del | |
| NG_021151.2:g.27374_27375del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.399_400del MANE Select | ENSP00000368100.4:p.Ala134ArgfsTer3 | |
| ENST00000638452.2:c.102_103del | ENSP00000492349.2:p.Ala35ArgfsTer3 | |
| ENST00000638504.1:n.442+3422_442+3423del | ||
| ENST00000638568.2:c.102_103del | ENSP00000491158.2:p.Ala35ArgfsTer3 | |
| ENST00000639899.1:n.559_560del | ||
| ENST00000640655.2:c.102_103del | ENSP00000491596.2:p.Ala35ArgfsTer3 | |
| ENST00000651160.1:c.399_400del | ENSP00000498829.1:p.Ala134ArgfsTer3 | |
| ENST00000651541.1:c.102_103del | ENSP00000498795.1:p.Ala35ArgfsTer3 | |
| ENST00000651658.1:n.467_468del | ||
| ENST00000651723.1:c.*482_*483del | ENSP00000498237.1:n.*482_*483del | |
| ENST00000652016.1:c.399_400del | ENSP00000498267.1:p.Ala134ArgfsTer3 | |
| ENST00000652485.1:c.399_400del | ENSP00000498973.1:p.Ala134ArgfsTer3 | |
| ENST00000378823.7:c.399_400del | ENSP00000368100.4:p.Ala134ArgfsTer3 | |
| ENST00000416135.5:c.102_103del | ENSP00000389515.1:p.Ala35ArgfsTer3 | |
| ENST00000423956.5:c.399_400del | ENSP00000390971.1:p.Ala134ArgfsTer3 | |
| ENST00000453394.5:c.399_400del | ENSP00000400049.1:p.Ala134ArgfsTer3 | |
| ENST00000533482.5:c.*25_*26del | ENSP00000431225.1:n.*25_*26del | |
| NM_005732.3:c.399_400del | NP_005723.2:p.Ala134ArgfsTer3 | |
| NM_005732.4:c.399_400del MANE Select | NP_005723.2:p.Ala134ArgfsTer3 |