Linked Data
dbSNP Id:
rs2077593451
gnomAD v3:
19-11123673-T-TGAGGCAAG
gnomAD v4:
19-11123673-T-TGAGGCAAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123674_11123675insAGGCAAGG , CM000681.2:g.11123674_11123675insAGGCAAGG | GRCh38 |
| NC_000019.9:g.11234350_11234351insAGGCAAGG , CM000681.1:g.11234350_11234351insAGGCAAGG | GRCh37 |
| NC_000019.8:g.11095350_11095351insAGGCAAGG | NCBI36 |
| NG_009060.1:g.39294_39295insAGGCAAGG , LRG_274:g.39294_39295insAGGCAAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2569+330_2569+331insAGGCAAGG | ENSP00000252444.6:n.2569+330_2569+331insAGGCAAGG | |
| ENST00000559340.2:c.*380+330_*380+331insAGGCAAGG | ENSP00000453696.2:n.*380+330_*380+331insAGGCAAGG | |
| ENST00000560467.2:c.2191+330_2191+331insAGGCAAGG | ENSP00000453513.2:n.2191+330_2191+331insAGGCAAGG | |
| ENST00000558518.6:c.2311+330_2311+331insAGGCAAGG MANE Select | ENSP00000454071.1:n.2311+330_2311+331insAGGCAAGG | |
| ENST00000252444.9:c.2565+330_2565+331insAGGCAAGG | ||
| ENST00000455727.6:c.1807+330_1807+331insAGGCAAGG | ENSP00000397829.2:n.1807+330_1807+331insAGGCAAGG | |
| ENST00000535915.5:c.2188+330_2188+331insAGGCAAGG | ENSP00000440520.1:n.2188+330_2188+331insAGGCAAGG | |
| ENST00000545707.5:c.1777+330_1777+331insAGGCAAGG | ENSP00000437639.1:n.1777+330_1777+331insAGGCAAGG | |
| ENST00000557933.5:c.2311+330_2311+331insAGGCAAGG | ENSP00000453557.1:n.2311+330_2311+331insAGGCAAGG | |
| ENST00000558013.5:c.2311+330_2311+331insAGGCAAGG | ENSP00000453346.1:n.2311+330_2311+331insAGGCAAGG | |
| ENST00000558518.5:c.2311+330_2311+331insAGGCAAGG | ENSP00000454071.1:n.2311+330_2311+331insAGGCAAGG | |
| NM_000527.4:c.2311+330_2311+331insAGGCAAGG , LRG_274t1:c.2311+330_2311+331insAGGCAAGG | NP_000518.1:n.2311+330_2311+331insAGGCAAGG | |
| NM_001195798.1:c.2311+330_2311+331insAGGCAAGG | NP_001182727.1:n.2311+330_2311+331insAGGCAAGG | |
| NM_001195799.1:c.2188+330_2188+331insAGGCAAGG | NP_001182728.1:n.2188+330_2188+331insAGGCAAGG | |
| NM_001195800.1:c.1807+330_1807+331insAGGCAAGG | NP_001182729.1:n.1807+330_1807+331insAGGCAAGG | |
| NM_001195803.1:c.1777+330_1777+331insAGGCAAGG | NP_001182732.1:n.1777+330_1777+331insAGGCAAGG | |
| XM_011528010.1:c.2311+330_2311+331insAGGCAAGG | XP_011526312.1:n.2311+330_2311+331insAGGCAAGG | |
| XM_011528011.1:c.1930+330_1930+331insAGGCAAGG | XP_011526313.1:n.1930+330_1930+331insAGGCAAGG | |
| XR_244074.2:n.2321+330_2321+331insAGGCAAGG | ||
| XM_011528010.2:c.2311+330_2311+331insAGGCAAGG | XP_011526312.1:n.2311+330_2311+331insAGGCAAGG | |
| XR_001753685.2:n.2645+330_2645+331insAGGCAAGG | ||
| XR_001753686.2:n.2288+330_2288+331insAGGCAAGG | ||
| NM_000527.5:c.2311+330_2311+331insAGGCAAGG MANE Select | NP_000518.1:n.2311+330_2311+331insAGGCAAGG | |
| NM_001195798.2:c.2311+330_2311+331insAGGCAAGG | NP_001182727.1:n.2311+330_2311+331insAGGCAAGG | |
| NM_001195799.2:c.2188+330_2188+331insAGGCAAGG | NP_001182728.1:n.2188+330_2188+331insAGGCAAGG | |
| NM_001195800.2:c.1807+330_1807+331insAGGCAAGG | NP_001182729.1:n.1807+330_1807+331insAGGCAAGG | |
| NM_001195803.2:c.1777+330_1777+331insAGGCAAGG | NP_001182732.1:n.1777+330_1777+331insAGGCAAGG |