Linked Data
ClinVar Variation Id:
141279
dbSNP Id:
rs587781625
gnomAD v2:
5-131893109-T-TA
gnomAD v3:
5-132557417-T-TA
gnomAD v4:
5-132557417-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132557418dup , CM000667.2:g.132557418dup | GRCh38 |
| NC_000005.9:g.131893110dup , CM000667.1:g.131893110dup | GRCh37 |
| NC_000005.8:g.131921009dup | NCBI36 |
| NG_021151.1:g.5495dup | |
| NG_021151.2:g.5442dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.94dup MANE Select | ENSP00000368100.4:p.Thr32AsnfsTer16 | |
| ENST00000638452.2:c.-168-1866dup | ENSP00000492349.2:n.-168-1866dup | |
| ENST00000638504.1:n.207-1866dup | ||
| ENST00000638568.2:c.-169+945dup | ENSP00000491158.2:n.-169+945dup | |
| ENST00000639899.1:n.290-1866dup | ||
| ENST00000640655.2:c.-168-1866dup | ENSP00000491596.2:n.-168-1866dup | |
| ENST00000651160.1:c.94dup | ENSP00000498829.1:p.Thr32AsnfsTer16 | |
| ENST00000651541.1:c.-169+409dup | ENSP00000498795.1:n.-169+409dup | |
| ENST00000651658.1:n.162dup | ||
| ENST00000651723.1:c.94dup | ENSP00000498237.1:p.Thr32AsnfsTer? | |
| ENST00000652016.1:c.94dup | ENSP00000498267.1:p.Thr32AsnfsTer16 | |
| ENST00000652485.1:c.94dup | ENSP00000498973.1:p.Thr32AsnfsTer16 | |
| ENST00000378823.7:c.94dup | ENSP00000368100.4:p.Thr32AsnfsTer16 | |
| ENST00000416135.5:c.-169+945dup | ENSP00000389515.1:n.-169+945dup | |
| ENST00000423956.5:c.94dup | ENSP00000390971.1:p.Thr32AsnfsTer16 | |
| ENST00000453394.5:c.94dup | ENSP00000400049.1:p.Thr32AsnfsTer16 | |
| ENST00000533482.5:c.94dup | ENSP00000431225.1:p.Thr32AsnfsTer16 | |
| NM_005732.3:c.94dup | NP_005723.2:p.Thr32AsnfsTer16 | |
| NM_005732.4:c.94dup MANE Select | NP_005723.2:p.Thr32AsnfsTer16 |