Linked Data
ClinVar Variation Id:
316203
ClinVar RCV Id:
RCV000342700
dbSNP Id:
rs35410548
gnomAD v2:
15-45653572-C-CTG
gnomAD v3:
15-45361374-C-CTG
gnomAD v4:
15-45361374-C-CTG
MyVariant Identifiers:
chr15:g.45653573_45653574insGT (hg19)
chr15:g.45653572_45653573insTG (hg19)
chr15:g.45361375_45361376insGT (hg38)
chr15:g.45361374_45361375insTG (hg38)
ERepo:
CA10636071/MONDO:0012996/025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45361375_45361376insGT , CM000677.2:g.45361375_45361376insGT | GRCh38 |
| NC_000015.9:g.45653573_45653574insGT , CM000677.1:g.45653573_45653574insGT | GRCh37 |
| NC_000015.8:g.43440865_43440866insGT | NCBI36 |
| NG_011674.1:g.22408_22409insCA | |
| NG_011674.2:g.45943_45944insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.*734_*735insCA MANE Select | ENSP00000379895.3:n.*734_*735insCA | |
| ENST00000675158.1:c.*906_*907insCA | ENSP00000501737.1:n.*906_*907insCA | |
| ENST00000675323.1:c.*2508_*2509insCA | ENSP00000502445.1:n.*2508_*2509insCA | |
| ENST00000676090.1:c.*2737_*2738insCA | ENSP00000501630.1:n.*2737_*2738insCA | |
| ENST00000396659.7:c.*734_*735insCA | ENSP00000379895.3:n.*734_*735insCA | |
| ENST00000558362.5:n.3662_3663insCA | ||
| NM_001482.2:c.*734_*735insCA | NP_001473.1:n.*734_*735insCA | |
| XM_011521450.1:c.*734_*735insCA | XP_011519752.1:n.*734_*735insCA | |
| XM_011521451.1:c.*734_*735insCA | XP_011519753.1:n.*734_*735insCA | |
| NM_001321015.1:c.*734_*735insCA | NP_001307944.1:n.*734_*735insCA | |
| NM_001482.3:c.*734_*735insCA MANE Select | NP_001473.1:n.*734_*735insCA | |
| NM_001321015.2:c.*734_*735insCA | NP_001307944.1:n.*734_*735insCA |