Linked Data
dbSNP Id:
rs1441307479
gnomAD v2:
11-128761324-C-CAG
gnomAD v3:
11-128891429-C-CAG
gnomAD v4:
11-128891429-C-CAG
MyVariant Identifiers:
chr11:g.128761324_128761325insAG (hg19)
chr11:g.128891429_128891430insAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891430_128891431insGA , CM000673.2:g.128891430_128891431insGA | GRCh38 |
| NC_000011.9:g.128761325_128761326insGA , CM000673.1:g.128761325_128761326insGA | GRCh37 |
| NC_000011.8:g.128266535_128266536insGA | NCBI36 |
| NG_023406.2:g.5013_5014insGA , LRG_333:g.5013_5014insGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-302_-301insGA MANE Select | ENSP00000433295.1:n.-302_-301insGA | |
| ENST00000529694.5:c.-302_-301insGA | ENSP00000433295.1:n.-302_-301insGA | |
| NM_000890.3:c.-302_-301insGA , LRG_333t1:c.-302_-301insGA | NP_000881.3:n.-302_-301insGA | |
| NM_000890.4:c.-302_-301insGA | NP_000881.3:n.-302_-301insGA | |
| NM_001354169.1:c.-391_-390insGA | NP_001341098.1:n.-391_-390insGA | |
| NM_000890.5:c.-302_-301insGA MANE Select | NP_000881.3:n.-302_-301insGA | |
| NM_001354169.2:c.-391_-390insGA | NP_001341098.1:n.-391_-390insGA |