Linked Data
ClinVar Variation Id:
303624
dbSNP Id:
rs886048008
gnomAD v3:
11-128891473-GAGAT-G
gnomAD v4:
11-128891473-GAGAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891474_128891477del , CM000673.2:g.128891474_128891477del | GRCh38 |
| NC_000011.9:g.128761369_128761372del , CM000673.1:g.128761369_128761372del | GRCh37 |
| NC_000011.8:g.128266579_128266582del | NCBI36 |
| NG_023406.2:g.5057_5060del , LRG_333:g.5057_5060del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-258_-255del MANE Select | ENSP00000433295.1:n.-258_-255del | |
| ENST00000338350.4:c.-347_-344del | ENSP00000339960.4:n.-347_-344del | |
| ENST00000529694.5:c.-258_-255del | ENSP00000433295.1:n.-258_-255del | |
| NM_000890.3:c.-258_-255del , LRG_333t1:c.-258_-255del | NP_000881.3:n.-258_-255del | |
| NM_000890.4:c.-258_-255del | NP_000881.3:n.-258_-255del | |
| NM_001354169.1:c.-347_-344del | NP_001341098.1:n.-347_-344del | |
| NM_000890.5:c.-258_-255del MANE Select | NP_000881.3:n.-258_-255del | |
| NM_001354169.2:c.-347_-344del | NP_001341098.1:n.-347_-344del |