Linked Data
ClinVar Variation Id:
1295701
ClinVar RCV Id:
RCV001722949
dbSNP Id:
rs3832901
gnomAD v2:
13-110821844-A-AACACAC
gnomAD v3:
13-110169497-A-AACACAC
gnomAD v4:
13-110169497-A-AACACAC
MyVariant Identifiers:
chr13:g.110821844_110821845insACACAC (hg19)
chr13:g.110169497_110169498insACACAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169521_110169526dup , CM000675.2:g.110169521_110169526dup | GRCh38 |
| NC_000013.10:g.110821868_110821873dup , CM000675.1:g.110821868_110821873dup | GRCh37 |
| NC_000013.9:g.109619869_109619874dup | NCBI36 |
| NG_011544.2:g.142647_142652dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3876+126_3876+131dup MANE Select | ENSP00000364979.4:n.3876+126_3876+131dup | |
| ENST00000650424.1:c.32+126_32+131dup | ||
| ENST00000375820.8:c.3876+126_3876+131dup | ENSP00000364979.4:n.3876+126_3876+131dup | |
| NM_001845.5:c.3876+126_3876+131dup | NP_001836.3:n.3876+126_3876+131dup | |
| XM_011521048.1:c.3684+126_3684+131dup | XP_011519350.1:n.3684+126_3684+131dup | |
| XM_011521048.2:c.3684+126_3684+131dup | XP_011519350.1:n.3684+126_3684+131dup | |
| NM_001845.6:c.3876+126_3876+131dup MANE Select | NP_001836.3:n.3876+126_3876+131dup |