Linked Data
gnomAD v3:
22-50697556-G-GCGGCCCCGGCCCCGCGCCCGGC
gnomAD v4:
22-50697556-G-GCGGCCCCGGCCCCGCGCCCGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697557_50697558insGGCCCCGGCCCCGCGCCCGGCC , CM000684.2:g.50697557_50697558insGGCCCCGGCCCCGCGCCCGGCC | GRCh38 |
| NC_000022.10:g.51135985_51135986insGGCCCCGGCCCCGCGCCCGGCC , CM000684.1:g.51135985_51135986insGGCCCCGGCCCCGCGCCCGGCC | GRCh37 |
| NC_000022.9:g.49482851_49482852insGGCCCCGGCCCCGCGCCCGGCC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-7_948-6insGGCCCCGGCCCCGCGCCCGGCC | ENSP00000489147.2:n.948-7_948-6insGGCCCCGGCCCCGCGCCCGGCC | |
| ENST00000414786.7:n.1532-7_1532-6insGGCCCCGGCCCCGCGCCCGGCC | ||
| ENST00000673971.2:c.1305-7_1305-6insGGCCCCGGCCCCGCGCCCGGCC | ENSP00000501192.1:n.1305-7_1305-6insGGCCCCGGCCCCGCGCCCGGCC | |
| ENST00000262795.6:c.948-7_948-6insGGCCCCGGCCCCGCGCCCGGCC | ENSP00000489147.2:n.948-7_948-6insGGCCCCGGCCCCGCGCCCGGCC | |
| ENST00000673971.1:c.1305-7_1305-6insGGCCCCGGCCCCGCGCCCGGCC | ENSP00000501192.1:n.1305-7_1305-6insGGCCCCGGCCCCGCGCCCGGCC | |
| ENST00000262795.5:c.1345-8_1345-7insGGCCCCGGCCCCGCGCCCGGCC | ENSP00000489147.1:n.1345-8_1345-7insGGCCCCGGCCCCGCGCCCGGCC | |
| ENST00000414786.6:n.1532-7_1532-6insGGCCCCGGCCCCGCGCCCGGCC | ||
| ENST00000445220.5:c.1326-7_1326-6insGGCCCCGGCCCCGCGCCCGGCC | ENSP00000489407.1:n.1326-7_1326-6insGGCCCCGGCCCCGCGCCCGGCC |