Linked Data
gnomAD v3:
22-50697556-G-GGCCCCGGCCCCGGCCCCGCGCCCGGC
gnomAD v4:
22-50697556-G-GGCCCCGGCCCCGGCCCCGCGCCCGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697556_50697557insGCCCCGGCCCCGGCCCCGCGCCCGGC , CM000684.2:g.50697556_50697557insGCCCCGGCCCCGGCCCCGCGCCCGGC | GRCh38 |
| NC_000022.10:g.51135984_51135985insGCCCCGGCCCCGGCCCCGCGCCCGGC , CM000684.1:g.51135984_51135985insGCCCCGGCCCCGGCCCCGCGCCCGGC | GRCh37 |
| NC_000022.9:g.49482850_49482851insGCCCCGGCCCCGGCCCCGCGCCCGGC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-8_948-7insGCCCCGGCCCCGGCCCCGCGCCCGGC | ENSP00000489147.2:n.948-8_948-7insGCCCCGGCCCCGGCCCCGCGCCCGGC | |
| ENST00000414786.7:n.1532-8_1532-7insGCCCCGGCCCCGGCCCCGCGCCCGGC | ||
| ENST00000673971.2:c.1305-8_1305-7insGCCCCGGCCCCGGCCCCGCGCCCGGC | ENSP00000501192.1:n.1305-8_1305-7insGCCCCGGCCCCGGCCCCGCGCCCGG... | |
| ENST00000262795.6:c.948-8_948-7insGCCCCGGCCCCGGCCCCGCGCCCGGC | ENSP00000489147.2:n.948-8_948-7insGCCCCGGCCCCGGCCCCGCGCCCGGC | |
| ENST00000673971.1:c.1305-8_1305-7insGCCCCGGCCCCGGCCCCGCGCCCGGC | ENSP00000501192.1:n.1305-8_1305-7insGCCCCGGCCCCGGCCCCGCGCCCGG... | |
| ENST00000262795.5:c.1345-9_1345-8insGCCCCGGCCCCGGCCCCGCGCCCGGC | ENSP00000489147.1:n.1345-9_1345-8insGCCCCGGCCCCGGCCCCGCGCCCGG... | |
| ENST00000414786.6:n.1532-8_1532-7insGCCCCGGCCCCGGCCCCGCGCCCGGC | ||
| ENST00000445220.5:c.1326-8_1326-7insGCCCCGGCCCCGGCCCCGCGCCCGGC | ENSP00000489407.1:n.1326-8_1326-7insGCCCCGGCCCCGGCCCCGCGCCCGG... |