Linked Data
dbSNP Id:
rs1569146617
gnomAD v2:
22-26879986-AGAGAGGCGGCGCCCCGGG-A
gnomAD v3:
22-26484020-AGAGAGGCGGCGCCCCGGG-A
gnomAD v4:
22-26484020-AGAGAGGCGGCGCCCCGGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26484022_26484039del , CM000684.2:g.26484022_26484039del | GRCh38 |
| NC_000022.10:g.26879988_26880005del , CM000684.1:g.26879988_26880005del | GRCh37 |
| NC_000022.9:g.25209988_25210005del | NCBI36 |
| NG_009763.2:g.4826_4843del , LRG_590:g.4826_4843del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215917.11:c.132_149del MANE Select | ENSP00000215917.6:p.Arg44_Gly50delinsSer | |
| ENST00000613968.1:c.120_137del | ENSP00000482019.1:p.Arg40_Gly46delinsSer | |
| NM_001013694.2:c.132_149del | NP_001013716.2:p.Arg44_Gly50delinsSer | |
| XM_011530178.2:c.-128_-111del | XP_011528480.1:n.-128_-111del | |
| XM_017028799.2:c.132_149del | XP_016884288.1:p.Arg44_Gly50delinsSer | |
| NM_001013694.3:c.132_149del MANE Select | NP_001013716.2:p.Arg44_Gly50delinsSer |