Linked Data
dbSNP Id:
rs1566345756
gnomAD v2:
13-110821843-T-TC
gnomAD v3:
13-110169496-T-TC
gnomAD v4:
13-110169496-T-TC
MyVariant Identifiers:
chr13:g.110821843_110821844insC (hg19)
chr13:g.110169496_110169497insC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169496_110169497insC , CM000675.2:g.110169496_110169497insC | GRCh38 |
| NC_000013.10:g.110821843_110821844insC , CM000675.1:g.110821843_110821844insC | GRCh37 |
| NC_000013.9:g.109619844_109619845insC | NCBI36 |
| NG_011544.2:g.142653_142654insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3876+132_3876+133insG MANE Select | ENSP00000364979.4:n.3876+132_3876+133insG | |
| ENST00000650424.1:c.32+132_32+133insG | ||
| ENST00000375820.8:c.3876+132_3876+133insG | ENSP00000364979.4:n.3876+132_3876+133insG | |
| NM_001845.5:c.3876+132_3876+133insG | NP_001836.3:n.3876+132_3876+133insG | |
| XM_011521048.1:c.3684+132_3684+133insG | XP_011519350.1:n.3684+132_3684+133insG | |
| XM_011521048.2:c.3684+132_3684+133insG | XP_011519350.1:n.3684+132_3684+133insG | |
| NM_001845.6:c.3876+132_3876+133insG MANE Select | NP_001836.3:n.3876+132_3876+133insG |