Linked Data
dbSNP Id:
rs371824314
gnomAD v3:
16-3729973-C-CAGGAGACCCAGGCAGGAT
gnomAD v4:
16-3729973-C-CAGGAGACCCAGGCAGGAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729985_3730002dup , CM000678.2:g.3729985_3730002dup | GRCh38 |
| NC_000016.9:g.3779986_3780003dup , CM000678.1:g.3779986_3780003dup | GRCh37 |
| NC_000016.8:g.3719987_3720004dup | NCBI36 |
| NG_009873.1:g.155130_155147dup | |
| NG_009873.2:g.155723_155740dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5173-117_5173-100dup MANE Select | ENSP00000262367.5:n.5173-117_5173-100dup | |
| ENST00000262367.9:c.5173-117_5173-100dup | ENSP00000262367.5:n.5173-117_5173-100dup | |
| ENST00000382070.7:c.5059-117_5059-100dup | ENSP00000371502.3:n.5059-117_5059-100dup | |
| NM_001079846.1:c.5059-117_5059-100dup | NP_001073315.1:n.5059-117_5059-100dup | |
| NM_004380.2:c.5173-117_5173-100dup | NP_004371.2:n.5173-117_5173-100dup | |
| XM_005255124.3:c.5128-117_5128-100dup | XP_005255181.1:n.5128-117_5128-100dup | |
| XM_005255125.3:c.4756-117_4756-100dup | XP_005255182.1:n.4756-117_4756-100dup | |
| XM_006720848.2:c.4912-117_4912-100dup | XP_006720911.1:n.4912-117_4912-100dup | |
| XM_011522380.1:c.5119-117_5119-100dup | XP_011520682.1:n.5119-117_5119-100dup | |
| XM_011522381.1:c.4420-117_4420-100dup | XP_011520683.1:n.4420-117_4420-100dup | |
| XM_005255124.4:c.5128-117_5128-100dup | XP_005255181.1:n.5128-117_5128-100dup | |
| XM_005255125.4:c.4756-117_4756-100dup | XP_005255182.1:n.4756-117_4756-100dup | |
| XM_006720848.3:c.4912-117_4912-100dup | XP_006720911.1:n.4912-117_4912-100dup | |
| XM_011522381.2:c.4420-117_4420-100dup | XP_011520683.1:n.4420-117_4420-100dup | |
| XM_017022944.1:c.5167-117_5167-100dup | XP_016878433.1:n.5167-117_5167-100dup | |
| NM_004380.3:c.5173-117_5173-100dup MANE Select | NP_004371.2:n.5173-117_5173-100dup |