Linked Data
ClinVar Variation Id:
1669974
dbSNP Id:
rs879243445
gnomAD v3:
6-131847856-G-GTTGTGTGT
gnomAD v4:
6-131847856-G-GTTGTGTGT
MyVariant Identifiers:
chr6:g.132168996_132168997insTTGTGTGT (hg19)
chr6:g.131847856_131847857insTTGTGTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131847856_131847857insTTGTGTGT , CM000668.2:g.131847856_131847857insTTGTGTGT | GRCh38 |
| NC_000006.11:g.132168996_132168997insTTGTGTGT , CM000668.1:g.132168996_132168997insTTGTGTGT | GRCh37 |
| NC_000006.10:g.132210689_132210690insTTGTGTGT | NCBI36 |
| NG_008206.1:g.44841_44842insTTGTGTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.313+8_313+9insTTGTGTGT MANE Select | ENSP00000498074.1:n.313+8_313+9insTTGTGTGT | |
| ENST00000650507.1:c.320+8_320+9insTTGTGTGT | ENSP00000497375.1:n.320+8_320+9insTTGTGTGT | |
| ENST00000360971.6:c.313+8_313+9insTTGTGTGT | ENSP00000354238.2:n.313+8_313+9insTTGTGTGT | |
| ENST00000486853.1:n.333+8_333+9insTTGTGTGT | ||
| ENST00000513998.5:c.313+8_313+9insTTGTGTGT | ENSP00000422424.1:n.313+8_313+9insTTGTGTGT | |
| NM_006208.2:c.313+8_313+9insTTGTGTGT | NP_006199.2:n.313+8_313+9insTTGTGTGT | |
| NM_006208.3:c.313+8_313+9insTTGTGTGT MANE Select | NP_006199.2:n.313+8_313+9insTTGTGTGT |