Linked Data
ClinVar Variation Id:
961893
ClinVar RCV Id:
RCV001235655
dbSNP Id:
rs1301873688
gnomAD v2:
11-71155894-TCCTTA-T
gnomAD v3:
11-71444848-TCCTTA-T
gnomAD v4:
11-71444848-TCCTTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71444851_71444855del , CM000673.2:g.71444851_71444855del | GRCh38 |
| NC_000011.9:g.71155897_71155901del , CM000673.1:g.71155897_71155901del | GRCh37 |
| NC_000011.8:g.70833545_70833549del | NCBI36 |
| NG_012655.2:g.8579_8583del , LRG_340:g.8579_8583del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525346.6:c.98+2_98+6del | ||
| ENST00000526780.6:c.98+2_98+6del | ||
| ENST00000527316.6:c.-148+2_-148+6del | ||
| ENST00000529990.6:c.-115+2_-115+6del | ||
| ENST00000682708.1:c.98+2_98+6del | ||
| ENST00000682880.1:c.98+2_98+6del | ||
| ENST00000683287.1:c.98+2_98+6del | ||
| ENST00000683714.1:c.98+2_98+6del | ||
| ENST00000683874.1:n.375+2_375+6del | ||
| ENST00000685320.1:c.-333-792_-333-788del | ENSP00000509319.1:n.-333-792_-333-788del | |
| ENST00000690257.1:c.98+2_98+6del | ||
| ENST00000355527.8:c.98+2_98+6del | ||
| ENST00000355527.7:c.98+2_98+6del | ||
| ENST00000407721.6:c.98+2_98+6del | ||
| ENST00000525346.5:c.98+2_98+6del | ||
| ENST00000526780.5:c.98+2_98+6del | ||
| ENST00000527316.5:c.98+2_98+6del | ||
| ENST00000527452.1:c.98+2_98+6del | ||
| ENST00000529990.5:c.-1+2_-1+6del | ||
| ENST00000531364.5:c.98+2_98+6del | ||
| NM_001163817.1:c.98+2_98+6del | ||
| NM_001360.2:c.98+2_98+6del , LRG_340t1:c.98+2_98+6del | ||
| XM_011544777.1:c.98+2_98+6del | ||
| XM_011544777.2:c.98+2_98+6del | ||
| NM_001163817.2:c.98+2_98+6del | ||
| NM_001360.3:c.98+2_98+6del |