Linked Data
dbSNP Id:
rs774766892
gnomAD v2:
16-89681038-TA-T
gnomAD v3:
16-89614630-TA-T
gnomAD v4:
16-89614630-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89614636del , CM000678.2:g.89614636del | GRCh38 |
| NC_000016.9:g.89681044del , CM000678.1:g.89681044del | GRCh37 |
| NC_000016.8:g.88208545del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690203.1:c.-107+917del MANE Select | ENSP00000508584.1:n.-107+917del | |
| ENST00000421184.5:c.-107+1232del | ENSP00000397313.1:n.-107+1232del | |
| ENST00000564281.5:n.47+917del | ||
| ENST00000565249.5:n.171+917del | ||
| ENST00000570029.5:c.-107+1232del | ENSP00000455916.1:n.-107+1232del | |
| NM_001128141.2:c.-107+1232del | NP_001121613.1:n.-107+1232del | |
| XM_005256285.3:c.-107+917del | XP_005256342.1:n.-107+917del | |
| XM_011522926.1:c.-107+917del | XP_011521228.1:n.-107+917del | |
| XM_005256285.5:c.-107+917del | XP_005256342.1:n.-107+917del | |
| NM_001128141.3:c.-107+1232del | NP_001121613.1:n.-107+1232del | |
| NM_001389466.1:c.-107+917del MANE Select | NP_001376395.1:n.-107+917del | |
| NM_001389470.1:c.-107+917del | NP_001376399.1:n.-107+917del |