Linked Data
dbSNP Id:
rs1469309644
gnomAD v2:
11-67352678-GCT-G
gnomAD v3:
11-67585207-GCT-G
gnomAD v4:
11-67585207-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585208_67585209del , CM000673.2:g.67585208_67585209del | GRCh38 |
| NC_000011.9:g.67352679_67352680del , CM000673.1:g.67352679_67352680del | GRCh37 |
| NC_000011.8:g.67109255_67109256del | NCBI36 |
| NG_012075.1:g.6614_6615del , LRG_723:g.6614_6615del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.303_304del | ENSP00000381604.1:p.Cys102GlnfsTer15 | |
| ENST00000398606.10:c.303_304del MANE Select | ENSP00000381607.3:p.Cys102GlnfsTer11 | |
| ENST00000646888.1:c.*19_*20del | ENSP00000494477.1:n.*19_*20del | |
| ENST00000398603.5:c.303_304del | ENSP00000381604.1:p.Cys102GlnfsTer15 | |
| ENST00000398606.7:c.303_304del | ENSP00000381607.3:p.Cys102GlnfsTer11 | |
| ENST00000467591.1:n.414_415del | ||
| ENST00000494593.1:n.1098_1099del | ||
| ENST00000498765.5:c.366_367del | ||
| NM_000852.3:c.303_304del , LRG_723t1:c.303_304del | NP_000843.1:p.Cys102GlnfsTer11 | |
| NM_000852.4:c.303_304del MANE Select | NP_000843.1:p.Cys102GlnfsTer11 |