Linked Data
dbSNP Id:
rs1555823628
gnomAD v3:
20-35438358-T-TCTCACACACA
gnomAD v4:
20-35438358-T-TCTCACACACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35438359_35438360insTCACACACAC , CM000682.2:g.35438359_35438360insTCACACACAC | GRCh38 |
| NC_000020.10:g.34026151_34026152insTCACACACAC , CM000682.1:g.34026151_34026152insTCACACACAC | GRCh37 |
| NC_000020.9:g.33489565_33489566insTCACACACAC | NCBI36 |
| NG_008076.2:g.4861_4862insTGTGTGTGAG | |
| NG_008076.3:g.21388_21389insTGTGTGTGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374372.1:c.-241-190_-241-189insTGTGTGTGAG | ENSP00000363492.1:n.-241-190_-241-189insTGTGTGTGAG | |
| XM_011529075.1:c.-241-190_-241-189insTGTGTGTGAG | XP_011527377.1:n.-241-190_-241-189insTGTGTGTGAG | |
| XM_011529076.1:c.-241-190_-241-189insTGTGTGTGAG | XP_011527378.1:n.-241-190_-241-189insTGTGTGTGAG | |
| NM_001319138.1:c.-241-190_-241-189insTGTGTGTGAG | NP_001306067.1:n.-241-190_-241-189insTGTGTGTGAG | |
| NM_001319138.2:c.-241-190_-241-189insTGTGTGTGAG | NP_001306067.1:n.-241-190_-241-189insTGTGTGTGAG |