Linked Data
dbSNP Id:
rs1376222103
gnomAD v2:
3-143504540-C-CGT
gnomAD v3:
3-143785698-C-CGT
gnomAD v4:
3-143785698-C-CGT
MyVariant Identifiers:
chr3:g.143504540_143504541insGT (hg19)
chr3:g.143785698_143785699insGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143785707_143785708dup , CM000665.2:g.143785707_143785708dup | GRCh38 |
| NC_000003.11:g.143504549_143504550dup , CM000665.1:g.143504549_143504550dup | GRCh37 |
| NC_000003.10:g.144987239_144987240dup | NCBI36 |
| NG_017077.1:g.67832_67833dup | |
| NG_017077.2:g.67832_67833dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316549.11:c.533+9301_533+9302dup MANE Select | ENSP00000320246.6:n.533+9301_533+9302dup | |
| ENST00000316549.10:c.533+9301_533+9302dup | ENSP00000320246.6:n.533+9301_533+9302dup | |
| ENST00000474727.2:c.*144+9301_*144+9302dup | ENSP00000419090.2:n.*144+9301_*144+9302du... | |
| NM_173653.3:c.533+9301_533+9302dup | NP_775924.1:n.533+9301_533+9302dup | |
| XM_011512704.1:c.533+9301_533+9302dup | XP_011511006.1:n.533+9301_533+9302dup | |
| XM_011512704.3:c.533+9301_533+9302dup | XP_011511006.1:n.533+9301_533+9302dup | |
| XM_017006202.2:c.533+9301_533+9302dup | XP_016861691.1:n.533+9301_533+9302dup | |
| XM_017006203.1:c.182+9301_182+9302dup | XP_016861692.1:n.182+9301_182+9302dup | |
| NM_173653.4:c.533+9301_533+9302dup MANE Select | NP_775924.1:n.533+9301_533+9302dup |