Canonical Allele Identifier:
CA942309853
Gene:
Linked Data
gnomAD v3:
11-112164847-T-TGGCCGGGCGCGGTGGCTCACG
gnomAD v4:
11-112164847-T-TGGCCGGGCGCGGTGGCTCACG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112164847_112164848insGGCCGGGCGCGGTGGCTCACG , CM000673.2:g.112164847_112164848insGGCCGGGCGCGGTGGCTCACG | GRCh38 |
| NC_000011.9:g.112035570_112035571insGGCCGGGCGCGGTGGCTCACG , CM000673.1:g.112035570_112035571insGGCCGGGCGCGGTGGCTCACG | GRCh37 |
| NC_000011.8:g.111540780_111540781insGGCCGGGCGCGGTGGCTCACG | NCBI36 |
| NG_028143.1:g.4270_4271insCGTGAGCCACCGCGCCCGGCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525987.5:n.320-5572_320-5571insGGCCGGGCGCGGTGGCTCACG | ||
| ENST00000531744.5:c.315-5572_315-5571insGGCCGGGCGCGGTGGCTCACG | ENSP00000456957.1:n.315-5572_315-5571insG... | |
| ENST00000532699.1:c.315-5572_315-5571insGGCCGGGCGCGGTGGCTCACG | ENSP00000456434.1:n.315-5572_315-5571insG... |