Linked Data
dbSNP Id:
rs1049626491
gnomAD v4:
1-25543673-A-AGCGGCG
MyVariant Identifiers:
chr1:g.25870164_25870165insGCGGCG (hg19)
chr1:g.25543673_25543674insGCGGCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25543682_25543687dup , CM000663.2:g.25543682_25543687dup | GRCh38 |
| NC_000001.10:g.25870173_25870178dup , CM000663.1:g.25870173_25870178dup | GRCh37 |
| NC_000001.9:g.25742760_25742765dup | NCBI36 |
| NG_008932.1:g.5098_5103dup , LRG_276:g.5098_5103dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374338.5:c.-17_-12dup MANE Select | ENSP00000363458.4:n.-17_-12dup | |
| ENST00000374338.4:c.-17_-12dup | ENSP00000363458.4:n.-17_-12dup | |
| NM_015627.2:c.-17_-12dup , LRG_276t1:c.-17_-12dup | NP_056442.2:n.-17_-12dup | |
| XM_006710559.2:c.-17_-12dup | XP_006710622.1:n.-17_-12dup | |
| XM_006710560.2:c.-17_-12dup | XP_006710623.1:n.-17_-12dup | |
| XM_006710561.2:c.-17_-12dup | XP_006710624.1:n.-17_-12dup | |
| XM_011541209.1:c.-17_-12dup | XP_011539511.1:n.-17_-12dup | |
| XM_011541210.1:c.-17_-12dup | XP_011539512.1:n.-17_-12dup | |
| XM_011541211.1:c.-17_-12dup | XP_011539513.1:n.-17_-12dup | |
| XM_011541212.1:c.-17_-12dup | XP_011539514.1:n.-17_-12dup | |
| XR_426598.2:n.103_108dup | ||
| XR_946602.1:n.103_108dup | ||
| XR_946603.1:n.103_108dup | ||
| XM_006710559.4:c.-17_-12dup | XP_006710622.1:n.-17_-12dup | |
| XM_006710560.4:c.-17_-12dup | XP_006710623.1:n.-17_-12dup | |
| XM_006710561.4:c.-17_-12dup | XP_006710624.1:n.-17_-12dup | |
| XM_011541209.3:c.-17_-12dup | XP_011539511.1:n.-17_-12dup | |
| XM_011541210.3:c.-17_-12dup | XP_011539512.1:n.-17_-12dup | |
| XM_011541211.3:c.-17_-12dup | XP_011539513.1:n.-17_-12dup | |
| XM_011541212.3:c.-17_-12dup | XP_011539514.1:n.-17_-12dup | |
| XM_017000995.2:c.-17_-12dup | XP_016856484.1:n.-17_-12dup | |
| XR_001737112.2:n.54_59dup | ||
| XR_001737113.2:n.54_59dup | ||
| XR_002956258.1:n.54_59dup | ||
| XR_426598.4:n.54_59dup | ||
| XR_946602.3:n.54_59dup | ||
| XR_946603.3:n.54_59dup | ||
| NM_015627.3:c.-17_-12dup MANE Select | NP_056442.2:n.-17_-12dup |