Linked Data
dbSNP Id:
rs3055779
gnomAD v3:
20-35438358-T-TCACA
gnomAD v4:
20-35438358-T-TCACA
MyVariant Identifiers:
chr20:g.35438358_35438359insCACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35438388_35438391dup , CM000682.2:g.35438388_35438391dup | GRCh38 |
| NC_000020.10:g.34026180_34026183dup , CM000682.1:g.34026180_34026183dup | GRCh37 |
| NC_000020.9:g.33489594_33489597dup | NCBI36 |
| NG_008076.2:g.4858_4861dup | |
| NG_008076.3:g.21385_21388dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374372.1:c.-241-193_-241-190dup | ENSP00000363492.1:n.-241-193_-241-190dup | |
| XM_011529075.1:c.-241-193_-241-190dup | XP_011527377.1:n.-241-193_-241-190dup | |
| XM_011529076.1:c.-241-193_-241-190dup | XP_011527378.1:n.-241-193_-241-190dup | |
| NM_001319138.1:c.-241-193_-241-190dup | NP_001306067.1:n.-241-193_-241-190dup | |
| NM_001319138.2:c.-241-193_-241-190dup | NP_001306067.1:n.-241-193_-241-190dup |