Linked Data
dbSNP Id:
rs541533723
gnomAD v2:
10-124221201-G-GTC
gnomAD v4:
10-122461685-G-GTC
MyVariant Identifiers:
chr10:g.124221201_124221202insTC (hg19)
chr10:g.122461685_122461686insTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461685_122461686insTC , CM000672.2:g.122461685_122461686insTC | GRCh38 |
| NC_000010.10:g.124221201_124221202insTC , CM000672.1:g.124221201_124221202insTC | GRCh37 |
| NC_000010.9:g.124211191_124211192insTC | NCBI36 |
| NG_011554.1:g.5161_5162insTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.33_34insTC MANE Select | ENSP00000357980.3:p.Leu12SerfsTer? | |
| ENST00000648167.1:c.154+2976_154+2977insTC | ENSP00000498033.1:n.154+2976_154+2977insTC | |
| ENST00000368984.7:c.33_34insTC | ENSP00000357980.3:p.Leu12SerfsTer? | |
| NM_002775.4:c.33_34insTC | NP_002766.1:p.Leu12SerfsTer? | |
| NM_002775.5:c.33_34insTC MANE Select | NP_002766.1:p.Leu12SerfsTer? |