Linked Data
dbSNP Id:
rs1185423991
gnomAD v2:
11-47367919-TCCCTGTGTCC-T
gnomAD v4:
11-47346368-TCCCTGTGTCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47346370_47346379del , CM000673.2:g.47346370_47346379del | GRCh38 |
| NC_000011.9:g.47367921_47367930del , CM000673.1:g.47367921_47367930del | GRCh37 |
| NC_000011.8:g.47324497_47324506del | NCBI36 |
| NG_007667.1:g.11325_11334del , LRG_386:g.11325_11334del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.927-8_928del | ||
| ENST00000256993.8:c.927-8_928del | ||
| ENST00000399249.6:c.927-8_928del | ||
| ENST00000544791.1:c.927-8_928del | ||
| ENST00000545968.5:c.927-8_928del | ||
| NM_000256.3:c.927-8_928del , LRG_386t1:c.927-8_928del | ||
| XM_011520117.1:c.909-8_910del | ||
| XM_011520118.1:c.927-8_928del |