Linked Data
dbSNP Id:
rs1553781099
gnomAD v3:
3-129530533-A-ACACACACACACACAC
gnomAD v4:
3-129530533-A-ACACACACACACACAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129530533_129530534insCACACACACACACAC , CM000665.2:g.129530533_129530534insCACACACACACACAC | GRCh38 |
| NC_000003.11:g.129249376_129249377insCACACACACACACAC , CM000665.1:g.129249376_129249377insCACACACACACACAC | GRCh37 |
| NC_000003.10:g.130732066_130732067insCACACACACACACAC | NCBI36 |
| NG_009115.1:g.6895_6896insCACACACACACACAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.362-343_362-342insCACACACACACACAC MANE Select | ENSP00000296271.3:n.362-343_362-342insCACACACACACACAC | |
| ENST00000296271.3:c.362-343_362-342insCACACACACACACAC | ENSP00000296271.3:n.362-343_362-342insCACACACACACACAC | |
| NM_000539.3:c.362-343_362-342insCACACACACACACAC MANE Select | NP_000530.1:n.362-343_362-342insCACACACACACACAC |