Linked Data
dbSNP Id:
rs1926138176
gnomAD v3:
X-101348425-C-CCGGGGGGGGGGGGGGGGGG
gnomAD v4:
X-101348425-C-CCGGGGGGGGGGGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101348425_101348426insCGGGGGGGGGGGGGGGGGG , CM000685.2:g.101348425_101348426insCGGGGGGGGGGGGGGGGGG | GRCh38 |
| NC_000023.10:g.100603413_100603414insCGGGGGGGGGGGGGGGGGG , CM000685.1:g.100603413_100603414insCGGGGGGGGGGGGGGGGGG | GRCh37 |
| NC_000023.9:g.100490069_100490070insCGGGGGGGGGGGGGGGGGG | NCBI36 |
| NG_009616.1:g.42799_42800insCCCCCCCCCCCCCCCCCCG , LRG_128:g.42799_42800insCCCCCCCCCCCCCCCCCCG | |
| NG_011734.1:g.5544_5545insCCCCCCCCCCCCCCCCCCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.132+107_132+108insCCCCCCCCCCCCCCCCCCG MANE Select | ENSP00000361993.3:n.132+107_132+108insCCCCCCCCCCCCCCCCCCG | |
| ENST00000644112.2:c.133-25_133-24insCCCCCCCCCCCCCCCCCCG | ENSP00000494385.1:n.133-25_133-24insCCCCCCCCCCCCCCCCCCG | |
| ENST00000645279.1:c.133-25_133-24insCCCCCCCCCCCCCCCCCCG | ENSP00000494239.1:n.133-25_133-24insCCCCCCCCCCCCCCCCCCG | |
| ENST00000647480.1:n.150_151insCCCCCCCCCCCCCCCCCCG | ||
| ENST00000372902.3:c.132+107_132+108insCCCCCCCCCCCCCCCCCCG | ENSP00000361993.3:n.132+107_132+108insCCCCCCCCCCCCCCCCCCG | |
| ENST00000480575.1:n.218-25_218-24insCCCCCCCCCCCCCCCCCCG | ||
| NM_001145951.1:c.133-25_133-24insCCCCCCCCCCCCCCCCCCG | NP_001139423.1:n.133-25_133-24insCCCCCCCCCCCCCCCCCCG | |
| NM_004085.3:c.132+107_132+108insCCCCCCCCCCCCCCCCCCG | NP_004076.1:n.132+107_132+108insCCCCCCCCCCCCCCCCCCG | |
| NM_004085.4:c.132+107_132+108insCCCCCCCCCCCCCCCCCCG MANE Select | NP_004076.1:n.132+107_132+108insCCCCCCCCCCCCCCCCCCG | |
| NM_001145951.2:c.133-25_133-24insCCCCCCCCCCCCCCCCCCG | NP_001139423.1:n.133-25_133-24insCCCCCCCCCCCCCCCCCCG |