Linked Data
dbSNP Id:
rs2062484760
gnomAD v3:
20-35438380-A-ACACACACACT
gnomAD v4:
20-35438380-A-ACACACACACT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35438389_35438390insTCACACACAC , CM000682.2:g.35438389_35438390insTCACACACAC | GRCh38 |
| NC_000020.10:g.34026181_34026182insTCACACACAC , CM000682.1:g.34026181_34026182insTCACACACAC | GRCh37 |
| NC_000020.9:g.33489595_33489596insTCACACACAC | NCBI36 |
| NG_008076.2:g.4839_4840insAGTGTGTGTG | |
| NG_008076.3:g.21366_21367insAGTGTGTGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374372.1:c.-241-212_-241-211insAGTGTGTGTG | ENSP00000363492.1:n.-241-212_-241-211insAGTGTGTGTG | |
| XM_011529075.1:c.-241-212_-241-211insAGTGTGTGTG | XP_011527377.1:n.-241-212_-241-211insAGTGTGTGTG | |
| XM_011529076.1:c.-241-212_-241-211insAGTGTGTGTG | XP_011527378.1:n.-241-212_-241-211insAGTGTGTGTG | |
| NM_001319138.1:c.-241-212_-241-211insAGTGTGTGTG | NP_001306067.1:n.-241-212_-241-211insAGTGTGTGTG | |
| NM_001319138.2:c.-241-212_-241-211insAGTGTGTGTG | NP_001306067.1:n.-241-212_-241-211insAGTGTGTGTG |