Linked Data
gnomAD v4:
1-114714012-A-AGGGAAGGGGGGAGGGGAGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114714018_114714019insGGGGGAGGGGAGGGGGGGAAG , CM000663.2:g.114714018_114714019insGGGGGAGGGGAGGGGGGGAAG | GRCh38 |
| NC_000001.10:g.115256639_115256640insGGGGGAGGGGAGGGGGGGAAG , CM000663.1:g.115256639_115256640insGGGGGAGGGGAGGGGGGGAAG | GRCh37 |
| NC_000001.9:g.115058162_115058163insGGGGGAGGGGAGGGGGGGAAG | NCBI36 |
| NG_007572.1:g.7882_7883insCCCCTCCCCTCCCCCCTTCCC , LRG_92:g.7882_7883insCCCCTCCCCTCCCCCCTTCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.112-35_112-34insCCCCTCCCCTCCCCCCTTCCC MANE Select | ENSP00000358548.4:n.112-35_112-34insCCCCTCCCCTCCCCCCTTCCC | |
| ENST00000369535.4:c.112-35_112-34insCCCCTCCCCTCCCCCCTTCCC | ENSP00000358548.4:n.112-35_112-34insCCCCTCCCCTCCCCCCTTCCC | |
| NM_002524.4:c.112-35_112-34insCCCCTCCCCTCCCCCCTTCCC | NP_002515.1:n.112-35_112-34insCCCCTCCCCTCCCCCCTTCCC | |
| NM_002524.5:c.112-35_112-34insCCCCTCCCCTCCCCCCTTCCC MANE Select | NP_002515.1:n.112-35_112-34insCCCCTCCCCTCCCCCCTTCCC |