Linked Data
ClinVar Variation Id:
2585608
ClinVar RCV Id:
RCV003338225
dbSNP Id:
rs749211191
ExAC:
4:120181805 TG / T
gnomAD v2:
4-120181805-TG-T
gnomAD v3:
4-119260650-TG-T
gnomAD v4:
4-119260650-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119260654del , CM000666.2:g.119260654del | GRCh38 |
| NC_000004.11:g.120181809del , CM000666.1:g.120181809del | GRCh37 |
| NC_000004.10:g.120401257del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274030.11:c.822+1del | ||
| ENST00000450251.6:c.822+1del | ||
| ENST00000688980.1:c.822+1del | ||
| ENST00000692078.1:c.822+1del | ||
| ENST00000274030.10:c.822+1del | ||
| ENST00000450251.5:c.822+1del | ||
| ENST00000509769.5:c.822+1del | ||
| NM_019050.2:c.822+1del | ||
| XM_005263073.2:c.822+1del | ||
| XM_005263074.3:c.822+1del | ||
| XM_005263075.1:c.822+1del | ||
| XM_005263076.1:c.822+1del | ||
| XM_005263077.2:c.822+1del | ||
| XM_005263078.2:c.822+1del | ||
| XM_006714240.1:c.474+1del | ||
| XM_011532037.1:c.822+1del | ||
| XM_011532038.1:c.474+1del | ||
| XM_005263073.4:c.822+1del | ||
| XM_005263075.3:c.822+1del | ||
| XM_005263076.3:c.822+1del | ||
| XM_005263077.4:c.822+1del | ||
| XM_011532037.2:c.822+1del | ||
| XM_011532038.2:c.474+1del | ||
| XM_017008312.2:c.822+1del | ||
| XM_017008313.1:c.822+1del | ||
| XM_017008314.1:c.822+1del | ||
| XM_017008315.2:c.822+1del | ||
| XM_017008316.2:c.822+1del | ||
| XM_017008317.2:c.822+1del | ||
| XM_017008318.2:c.822+1del | ||
| NM_001371395.1:c.822+1del | ||
| NM_001371396.1:c.822+1del | ||
| NM_001371397.1:c.822+1del | ||
| NM_001371398.1:c.822+1del | ||
| NM_001371399.1:c.822+1del | ||
| NM_001389658.1:c.822+1del | ||
| NM_001389659.1:c.822+1del | ||
| NM_001389660.1:c.822+1del | ||
| NM_001389661.1:c.822+1del | ||
| NM_001389662.1:c.474+1del | ||
| NM_001389663.1:c.474+1del | ||
| NM_001389664.1:c.474+1del | ||
| NM_001389665.1:c.474+1del | ||
| NM_001389666.1:c.474+1del | ||
| NM_001389667.1:c.474+1del | ||
| NM_019050.3:c.822+1del |