Linked Data
ClinVar Variation Id:
858462
dbSNP Id:
rs1460147564
gnomAD v2:
19-1401439-C-CGGGCGCGAAGATGGGGGTCGCGCTGG
gnomAD v4:
19-1401440-C-CGGGCGCGAAGATGGGGGTCGCGCTGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401447_1401472dup , CM000681.2:g.1401447_1401472dup | GRCh38 |
| NC_000019.9:g.1401446_1401471dup , CM000681.1:g.1401446_1401471dup | GRCh37 |
| NC_000019.8:g.1352446_1352471dup | NCBI36 |
| NG_009785.1:g.5088_5113dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.11_36dup MANE Select | ENSP00000252288.1:p.Gly13ProfsTer38 | |
| ENST00000447102.8:c.11_36dup | ENSP00000403536.2:p.Gly13ProfsTer38 | |
| ENST00000640762.1:c.11_36dup | ENSP00000492031.1:p.Gly13ProfsTer? | |
| ENST00000252288.6:c.11_36dup | ENSP00000252288.1:p.Gly13ProfsTer38 | |
| ENST00000447102.7:c.11_36dup | ENSP00000403536.2:p.Gly13ProfsTer38 | |
| NM_000156.5:c.11_36dup | NP_000147.1:p.Gly13ProfsTer38 | |
| NM_138924.2:c.11_36dup | NP_620279.1:p.Gly13ProfsTer38 | |
| NM_000156.6:c.11_36dup MANE Select | NP_000147.1:p.Gly13ProfsTer38 | |
| NM_138924.3:c.11_36dup | NP_620279.1:p.Gly13ProfsTer38 |