Linked Data
ClinVar Variation Id:
422669
ClinVar RCV Id:
RCV000482009
dbSNP Id:
rs1064795927
gnomAD v4:
14-87992991-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87992992del , CM000676.2:g.87992992del | GRCh38 |
| NC_000014.8:g.88459336del , CM000676.1:g.88459336del | GRCh37 |
| NC_000014.7:g.87529089del | NCBI36 |
| NG_011853.2:g.5572del | |
| NG_011853.3:g.5572del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.173del MANE Select | ENSP00000261304.2:p.Ile58ThrfsTer14 | |
| ENST00000261304.6:c.173del | ENSP00000261304.2:p.Ile58ThrfsTer14 | |
| ENST00000393568.8:c.173del | ENSP00000377198.4:p.Ile58ThrfsTer18 | |
| ENST00000393569.6:c.117+391del | ENSP00000377199.2:n.117+391del | |
| ENST00000474294.6:n.163del | ||
| ENST00000554372.5:c.173del | ENSP00000451884.1:p.Ile58ThrfsTer14 | |
| ENST00000556879.5:c.131del | ENSP00000452208.1:p.Ile44ThrfsTer16 | |
| ENST00000557316.5:c.173del | ENSP00000452314.1:p.Ile58ThrfsTer14 | |
| ENST00000622264.4:c.163del | ||
| NM_000153.3:c.173del | NP_000144.2:p.Ile58ThrfsTer14 | |
| NM_001201401.1:c.173del | NP_001188330.1:p.Ile58ThrfsTer18 | |
| NM_001201402.1:c.117+391del | NP_001188331.1:n.117+391del | |
| NM_000153.4:c.173del MANE Select | NP_000144.2:p.Ile58ThrfsTer14 | |
| NM_001201401.2:c.173del | NP_001188330.1:p.Ile58ThrfsTer18 | |
| NM_001201402.2:c.117+391del | NP_001188331.1:n.117+391del |