Linked Data
dbSNP Id:
rs1164233045
gnomAD v2:
8-11560724-AC-A
gnomAD v3:
8-11703215-AC-A
gnomAD v4:
8-11703215-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11703218del , CM000670.2:g.11703218del | GRCh38 |
| NC_000008.10:g.11560727del , CM000670.1:g.11560727del | GRCh37 |
| NC_000008.9:g.11598136del | NCBI36 |
| NG_008177.2:g.31300del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526974.1:c.-458+2440del | ENSP00000473598.1:n.-458+2440del | |
| ENST00000528712.5:c.-6+2440del | ENSP00000435043.1:n.-6+2440del | |
| ENST00000532977.1:c.-458+2440del | ENSP00000473671.1:n.-458+2440del | |
| NM_001308094.1:c.-6+2440del | NP_001295023.1:n.-6+2440del | |
| XM_005272386.1:c.-458+2440del | XP_005272443.1:n.-458+2440del | |
| XM_006716248.1:c.-458+2440del | XP_006716311.1:n.-458+2440del | |
| XM_011543817.1:c.-458+2440del | XP_011542119.1:n.-458+2440del | |
| XM_011543818.1:c.-458+2761del | XP_011542120.1:n.-458+2761del | |
| XM_011543817.3:c.-458+2440del | XP_011542119.1:n.-458+2440del | |
| XM_011543818.2:c.-458+2761del | XP_011542120.1:n.-458+2761del | |
| NM_001308094.2:c.-6+2440del | NP_001295023.1:n.-6+2440del |