Linked Data
dbSNP Id:
rs1258997617
gnomAD v2:
11-128786209-A-ATGAC
gnomAD v3:
11-128916314-A-ATGAC
gnomAD v4:
11-128916314-A-ATGAC
MyVariant Identifiers:
chr11:g.128786209_128786210insTGAC (hg19)
chr11:g.128916314_128916315insTGAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128916316_128916317insACTG , CM000673.2:g.128916316_128916317insACTG | GRCh38 |
| NC_000011.9:g.128786211_128786212insACTG , CM000673.1:g.128786211_128786212insACTG | GRCh37 |
| NC_000011.8:g.128291421_128291422insACTG | NCBI36 |
| NG_023406.2:g.29899_29900insACTG , LRG_333:g.29899_29900insACTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.938-93_938-92insACTG MANE Select | ENSP00000433295.1:n.938-93_938-92insACTG | |
| ENST00000338350.4:c.938-93_938-92insACTG | ENSP00000339960.4:n.938-93_938-92insACTG | |
| ENST00000529694.5:c.938-93_938-92insACTG | ENSP00000433295.1:n.938-93_938-92insACTG | |
| ENST00000533599.1:c.938-93_938-92insACTG | ENSP00000434266.1:n.938-93_938-92insACTG | |
| NM_000890.3:c.938-93_938-92insACTG , LRG_333t1:c.938-93_938-92insACTG | NP_000881.3:n.938-93_938-92insACTG | |
| XM_011542809.1:c.938-93_938-92insACTG | XP_011541111.1:n.938-93_938-92insACTG | |
| XM_011542810.1:c.938-93_938-92insACTG | XP_011541112.1:n.938-93_938-92insACTG | |
| NM_000890.4:c.938-93_938-92insACTG | NP_000881.3:n.938-93_938-92insACTG | |
| NM_001354169.1:c.938-93_938-92insACTG | NP_001341098.1:n.938-93_938-92insACTG | |
| XM_011542809.2:c.938-93_938-92insACTG | XP_011541111.1:n.938-93_938-92insACTG | |
| XM_011542810.3:c.938-93_938-92insACTG | XP_011541112.1:n.938-93_938-92insACTG | |
| NM_000890.5:c.938-93_938-92insACTG MANE Select | NP_000881.3:n.938-93_938-92insACTG | |
| NM_001354169.2:c.938-93_938-92insACTG | NP_001341098.1:n.938-93_938-92insACTG |