Linked Data
dbSNP Id:
rs1877504441
gnomAD v3:
13-110169508-A-ACACACACACG
gnomAD v4:
13-110169508-A-ACACACACACG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169517_110169518insGCACACACAC , CM000675.2:g.110169517_110169518insGCACACACAC | GRCh38 |
| NC_000013.10:g.110821864_110821865insGCACACACAC , CM000675.1:g.110821864_110821865insGCACACACAC | GRCh37 |
| NC_000013.9:g.109619865_109619866insGCACACACAC | NCBI36 |
| NG_011544.2:g.142641_142642insCGTGTGTGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3876+120_3876+121insCGTGTGTGTG MANE Select | ENSP00000364979.4:n.3876+120_3876+121insCGTGTGTGTG | |
| ENST00000650424.1:c.32+120_32+121insCGTGTGTGTG | ||
| ENST00000375820.8:c.3876+120_3876+121insCGTGTGTGTG | ENSP00000364979.4:n.3876+120_3876+121insCGTGTGTGTG | |
| NM_001845.5:c.3876+120_3876+121insCGTGTGTGTG | NP_001836.3:n.3876+120_3876+121insCGTGTGTGTG | |
| XM_011521048.1:c.3684+120_3684+121insCGTGTGTGTG | XP_011519350.1:n.3684+120_3684+121insCGTGTGTGTG | |
| XM_011521048.2:c.3684+120_3684+121insCGTGTGTGTG | XP_011519350.1:n.3684+120_3684+121insCGTGTGTGTG | |
| NM_001845.6:c.3876+120_3876+121insCGTGTGTGTG MANE Select | NP_001836.3:n.3876+120_3876+121insCGTGTGTGTG |