Linked Data
ClinVar Variation Id:
367809
ClinVar RCV Id:
RCV001731641
dbSNP Id:
rs79291374
ExAC:
X:123043324 TGTATA / T
gnomAD v2:
X-123043324-TGTATA-T
gnomAD v3:
X-123909474-TGTATA-T
gnomAD v4:
X-123909474-TGTATA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.123909477_123909481del , CM000685.2:g.123909477_123909481del | GRCh38 |
| NC_000023.10:g.123043327_123043331del , CM000685.1:g.123043327_123043331del | GRCh37 |
| NC_000023.9:g.122871008_122871012del | NCBI36 |
| NG_007264.1:g.54280_54284del , LRG_19:g.54280_54284del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371199.8:c.*2296_*2300del MANE Select | ENSP00000360242.3:n.*2296_*2300del | |
| ENST00000355640.3:c.*2296_*2300del | ENSP00000347858.3:n.*2296_*2300del | |
| ENST00000371199.7:c.*2296_*2300del | ENSP00000360242.3:n.*2296_*2300del | |
| ENST00000434753.7:c.*2296_*2300del | ENSP00000395230.3:n.*2296_*2300del | |
| NM_001167.3:c.*2296_*2300del , LRG_19t1:c.*2296_*2300del | NP_001158.2:n.*2296_*2300del | |
| NM_001204401.1:c.*2296_*2300del | NP_001191330.1:n.*2296_*2300del | |
| NR_037916.1:n.3040_3044del | ||
| XM_006724754.2:c.*2296_*2300del | XP_006724817.1:n.*2296_*2300del | |
| XM_011531329.1:c.*2296_*2300del | XP_011529631.1:n.*2296_*2300del | |
| NM_001167.4:c.*2296_*2300del MANE Select | NP_001158.2:n.*2296_*2300del | |
| NM_001204401.2:c.*2296_*2300del | NP_001191330.1:n.*2296_*2300del | |
| NM_001378590.1:c.*2296_*2300del | NP_001365519.1:n.*2296_*2300del | |
| NM_001378591.1:c.*2296_*2300del | NP_001365520.1:n.*2296_*2300del | |
| NM_001378592.1:c.*2296_*2300del | NP_001365521.1:n.*2296_*2300del | |
| NR_037916.2:n.3154_3158del | ||
| NR_165803.1:n.3136_3140del |