Linked Data
dbSNP Id:
rs771215536
gnomAD v2:
11-47359970-CATGCCCGTG-C
gnomAD v3:
11-47338419-CATGCCCGTG-C
gnomAD v4:
11-47338419-CATGCCCGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47338423_47338431del , CM000673.2:g.47338423_47338431del | GRCh38 |
| NC_000011.9:g.47359974_47359982del , CM000673.1:g.47359974_47359982del | GRCh37 |
| NC_000011.8:g.47316550_47316558del | NCBI36 |
| NG_007667.1:g.19275_19283del , LRG_386:g.19275_19283del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2308+92_2308+100del MANE Select | ENSP00000442795.1:n.2308+92_2308+100del | |
| ENST00000256993.8:c.2308+92_2308+100del | ENSP00000256993.5:n.2308+92_2308+100del | |
| ENST00000399249.6:c.2308+92_2308+100del | ENSP00000382193.2:n.2308+92_2308+100del | |
| ENST00000544791.1:c.2308+92_2308+100del | ENSP00000444259.1:n.2308+92_2308+100del | |
| ENST00000545968.5:c.2308+92_2308+100del | ENSP00000442795.1:n.2308+92_2308+100del | |
| NM_000256.3:c.2308+92_2308+100del , LRG_386t1:c.2308+92_2308+100del MANE Select | NP_000247.2:n.2308+92_2308+100del | |
| XM_011520117.1:c.2290+92_2290+100del | XP_011518419.1:n.2290+92_2290+100del | |
| XM_011520118.1:c.2227+92_2227+100del | XP_011518420.1:n.2227+92_2227+100del |