Linked Data
ClinVar Variation Id:
358785
ClinVar RCV Id:
RCV000287627
dbSNP Id:
rs200757052
gnomAD v2:
7-127250640-C-CACAT
gnomAD v3:
7-127610586-C-CACAT
gnomAD v4:
7-127610586-C-CACAT
MyVariant Identifiers:
chr7:g.127250640_127250641insACAT (hg19)
chr7:g.127610586_127610587insACAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.127610586_127610587insACAT , CM000669.2:g.127610586_127610587insACAT | GRCh38 |
| NC_000007.13:g.127250640_127250641insACAT , CM000669.1:g.127250640_127250641insACAT | GRCh37 |
| NC_000007.12:g.127037876_127037877insACAT | NCBI36 |
| NG_012848.1:g.10140_10141insATGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639438.3:c.*477_*478insATGT MANE Select | ENSP00000491782.1:n.*477_*478insATGT | |
| ENST00000341640.6:c.*477_*478insATGT | ENSP00000339906.2:n.*477_*478insATGT | |
| NM_006193.2:c.*477_*478insATGT | NP_006184.2:n.*477_*478insATGT | |
| NM_001366110.1:c.*477_*478insATGT MANE Select | NP_001353039.1:n.*477_*478insATGT | |
| NM_001366111.1:c.*265_*266insATGT | NP_001353040.1:n.*265_*266insATGT |