Linked Data
gnomAD v3:
22-50697543-T-TCGGGGCCGGGCCGCGCGCC
gnomAD v4:
22-50697543-T-TCGGGGCCGGGCCGCGCGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697543_50697544insCGGGGCCGGGCCGCGCGCC , CM000684.2:g.50697543_50697544insCGGGGCCGGGCCGCGCGCC | GRCh38 |
| NC_000022.10:g.51135971_51135972insCGGGGCCGGGCCGCGCGCC , CM000684.1:g.51135971_51135972insCGGGGCCGGGCCGCGCGCC | GRCh37 |
| NC_000022.9:g.49482837_49482838insCGGGGCCGGGCCGCGCGCC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-21_948-20insCGGGGCCGGGCCGCGCGCC | ENSP00000489147.2:n.948-21_948-20insCGGGGCCGGGCCGCGCGCC | |
| ENST00000414786.7:n.1532-21_1532-20insCGGGGCCGGGCCGCGCGCC | ||
| ENST00000673971.2:c.1305-21_1305-20insCGGGGCCGGGCCGCGCGCC | ENSP00000501192.1:n.1305-21_1305-20insCGGGGCCGGGCCGCGCGCC | |
| ENST00000262795.6:c.948-21_948-20insCGGGGCCGGGCCGCGCGCC | ENSP00000489147.2:n.948-21_948-20insCGGGGCCGGGCCGCGCGCC | |
| ENST00000673971.1:c.1305-21_1305-20insCGGGGCCGGGCCGCGCGCC | ENSP00000501192.1:n.1305-21_1305-20insCGGGGCCGGGCCGCGCGCC | |
| ENST00000262795.5:c.1345-22_1345-21insCGGGGCCGGGCCGCGCGCC | ENSP00000489147.1:n.1345-22_1345-21insCGGGGCCGGGCCGCGCGCC | |
| ENST00000414786.6:n.1532-21_1532-20insCGGGGCCGGGCCGCGCGCC | ||
| ENST00000445220.5:c.1326-21_1326-20insCGGGGCCGGGCCGCGCGCC | ENSP00000489407.1:n.1326-21_1326-20insCGGGGCCGGGCCGCGCGCC |