Linked Data
ClinVar Variation Id:
343808
dbSNP Id:
rs34027634
ExAC:
3:150645418 T / TACAC
gnomAD v2:
3-150645418-T-TACAC
gnomAD v3:
3-150927631-T-TACAC
gnomAD v4:
3-150927631-T-TACAC
MyVariant Identifiers:
chr3:g.150645419_150645422dupACAC (hg19)
chr3:g.150645434_150645435insACAC (hg19)
chr3:g.150645424_150645425insACAC (hg19)
chr3:g.150645418_150645419insACAC (hg19)
chr3:g.150927632_150927635dupACAC (hg38)
chr3:g.150927647_150927648insACAC (hg38)
chr3:g.150927637_150927638insACAC (hg38)
chr3:g.150927631_150927632insACAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150927657_150927660dup , CM000665.2:g.150927657_150927660dup | GRCh38 |
| NC_000003.11:g.150645444_150645447dup , CM000665.1:g.150645444_150645447dup | GRCh37 |
| NC_000003.10:g.152128134_152128137dup | NCBI36 |
| NG_009168.1:g.50365_50368dup , LRG_700:g.50365_50368dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.*301_*304dup MANE Select | ENSP00000322280.1:n.*301_*304dup | |
| ENST00000295911.6:c.342+430_342+433dup | ENSP00000295911.2:n.342+430_342+433dup | |
| ENST00000327047.5:c.*301_*304dup | ENSP00000322280.1:n.*301_*304dup | |
| ENST00000562308.5:c.104+13947_104+13950dup | ||
| ENST00000565169.1:c.162+13947_162+13950dup | ||
| ENST00000569170.5:c.162+13947_162+13950dup | ||
| NM_001195794.1:c.*301_*304dup , LRG_700t1:c.*301_*304dup | NP_001182723.1:n.*301_*304dup | |
| NM_001256819.1:c.*614_*617dup | NP_001243748.1:n.*614_*617dup | |
| NM_052995.2:c.342+430_342+433dup , LRG_700t2:c.342+430_342+433dup | NP_443721.1:n.342+430_342+433dup | |
| NM_174878.2:c.*301_*304dup | NP_777367.1:n.*301_*304dup | |
| NR_046380.2:n.1481_1484dup | ||
| XR_924167.1:n.1312_1315dup | ||
| NM_001256819.2:c.*614_*617dup | NP_001243748.1:n.*614_*617dup | |
| NM_174878.3:c.*301_*304dup MANE Select | NP_777367.1:n.*301_*304dup | |
| NR_046380.3:n.1209_1212dup |