Linked Data
ClinVar Variation Id:
128017
dbSNP Id:
rs587780155
ExAC:
5:131911577 AAGAC / A
gnomAD v2:
5-131911577-AAGAC-A
gnomAD v3:
5-132575885-AAGAC-A
gnomAD v4:
5-132575885-AAGAC-A
MyVariant Identifiers:
chr5:g.131911581_131911584del (hg19)
chr5:g.131911578_131911581del (hg19)
chr5:g.132575889_132575892del (hg38)
chr5:g.132575886_132575889del (hg38)
PubMed:
PMID:26023681
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132575889_132575892del , CM000667.2:g.132575889_132575892del | GRCh38 |
| NC_000005.9:g.131911581_131911584del , CM000667.1:g.131911581_131911584del | GRCh37 |
| NC_000005.8:g.131939480_131939483del | NCBI36 |
| NG_021151.1:g.23966_23969del | |
| NG_021151.2:g.23913_23916del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.326_329del MANE Select | ENSP00000368100.4:p.Thr109AsnfsTer20 | |
| ENST00000638452.2:c.29_32del | ENSP00000492349.2:p.Thr10AsnfsTer20 | |
| ENST00000638504.1:n.403_406del | ||
| ENST00000638568.2:c.29_32del | ENSP00000491158.2:p.Thr10AsnfsTer20 | |
| ENST00000639899.1:n.486_489del | ||
| ENST00000640655.2:c.29_32del | ENSP00000491596.2:p.Thr10AsnfsTer20 | |
| ENST00000651160.1:c.326_329del | ENSP00000498829.1:p.Thr109AsnfsTer20 | |
| ENST00000651541.1:c.29_32del | ENSP00000498795.1:p.Thr10AsnfsTer20 | |
| ENST00000651658.1:n.394_397del | ||
| ENST00000651723.1:c.*448+26_*448+29del | ENSP00000498237.1:n.*448+26_*448+29del | |
| ENST00000652016.1:c.326_329del | ENSP00000498267.1:p.Thr109AsnfsTer20 | |
| ENST00000652485.1:c.326_329del | ENSP00000498973.1:p.Thr109AsnfsTer20 | |
| ENST00000378823.7:c.326_329del | ENSP00000368100.4:p.Thr109AsnfsTer20 | |
| ENST00000416135.5:c.29_32del | ENSP00000389515.1:p.Thr10AsnfsTer20 | |
| ENST00000423956.5:c.326_329del | ENSP00000390971.1:p.Thr109AsnfsTer20 | |
| ENST00000453394.5:c.326_329del | ENSP00000400049.1:p.Thr109AsnfsTer20 | |
| ENST00000533482.5:c.300+26_300+29del | ENSP00000431225.1:n.300+26_300+29del | |
| NM_005732.3:c.326_329del | NP_005723.2:p.Thr109AsnfsTer20 | |
| NM_005732.4:c.326_329del MANE Select | NP_005723.2:p.Thr109AsnfsTer20 |