Linked Data
dbSNP Id:
rs1390134346
gnomAD v3:
12-52516427-C-CTGAA
gnomAD v4:
12-52516427-C-CTGAA
MyVariant Identifiers:
chr12:g.52910211_52910212insTGAA (hg19)
chr12:g.52516427_52516428insTGAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516427_52516428insTGAA , CM000674.2:g.52516427_52516428insTGAA | GRCh38 |
| NC_000012.11:g.52910211_52910212insTGAA , CM000674.1:g.52910211_52910212insTGAA | GRCh37 |
| NC_000012.10:g.51196478_51196479insTGAA | NCBI36 |
| NG_008297.1:g.9032_9033insTTCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1439+209_1439+210insTTCA MANE Select | ENSP00000252242.4:n.1439+209_1439+210insTTCA | |
| ENST00000252242.8:c.1439+209_1439+210insTTCA | ENSP00000252242.4:n.1439+209_1439+210insTTCA | |
| ENST00000548409.5:c.561+209_561+210insTTCA | ||
| ENST00000549511.5:n.646+209_646+210insTTCA | ||
| ENST00000552629.5:n.1746_1747insTTCA | ||
| NM_000424.3:c.1439+209_1439+210insTTCA | NP_000415.2:n.1439+209_1439+210insTTCA | |
| NM_000424.4:c.1439+209_1439+210insTTCA MANE Select | NP_000415.2:n.1439+209_1439+210insTTCA |