Linked Data
ClinVar Variation Id:
367803
ClinVar RCV Id:
RCV001731640
dbSNP Id:
rs747235601
ExAC:
X:123042204 CAATT / C
gnomAD v2:
X-123042204-CAATT-C
gnomAD v3:
X-123908354-CAATT-C
gnomAD v4:
X-123908354-CAATT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.123908360_123908363del , CM000685.2:g.123908360_123908363del | GRCh38 |
| NC_000023.10:g.123042210_123042213del , CM000685.1:g.123042210_123042213del | GRCh37 |
| NC_000023.9:g.122869891_122869894del | NCBI36 |
| NG_007264.1:g.53163_53166del , LRG_19:g.53163_53166del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422098.6:c.*1179_*1182del | ENSP00000405529.2:n.*1179_*1182del | |
| ENST00000371199.8:c.*1179_*1182del MANE Select | ENSP00000360242.3:n.*1179_*1182del | |
| ENST00000355640.3:c.*1179_*1182del | ENSP00000347858.3:n.*1179_*1182del | |
| ENST00000371199.7:c.*1179_*1182del | ENSP00000360242.3:n.*1179_*1182del | |
| ENST00000434753.7:c.*1179_*1182del | ENSP00000395230.3:n.*1179_*1182del | |
| NM_001167.3:c.*1179_*1182del , LRG_19t1:c.*1179_*1182del | NP_001158.2:n.*1179_*1182del | |
| NM_001204401.1:c.*1179_*1182del | NP_001191330.1:n.*1179_*1182del | |
| NR_037916.1:n.1923_1926del | ||
| XM_006724754.2:c.*1179_*1182del | XP_006724817.1:n.*1179_*1182del | |
| XM_011531329.1:c.*1179_*1182del | XP_011529631.1:n.*1179_*1182del | |
| NM_001167.4:c.*1179_*1182del MANE Select | NP_001158.2:n.*1179_*1182del | |
| NM_001204401.2:c.*1179_*1182del | NP_001191330.1:n.*1179_*1182del | |
| NM_001378590.1:c.*1179_*1182del | NP_001365519.1:n.*1179_*1182del | |
| NM_001378591.1:c.*1179_*1182del | NP_001365520.1:n.*1179_*1182del | |
| NM_001378592.1:c.*1179_*1182del | NP_001365521.1:n.*1179_*1182del | |
| NR_037916.2:n.2037_2040del | ||
| NR_165803.1:n.2019_2022del |