MyVariant.info:
GRCh38
chr20:g.3072306_3072307insA
GRCh38
chr20:g.3072305_3072306insA
GRCh37
chr20:g.3052952_3052953insA
GRCh37
chr20:g.3052951_3052952insA
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19326237 (SAS)
Genomes Max Group AF
0.17812324 (SAS)
Exomes Max Group AF
0.19360794 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3072306dup , CM000682.2:g.3072306dup | GRCh38 |
| NC_000020.10:g.3052952dup , CM000682.1:g.3052952dup | GRCh37 |
| NC_000020.9:g.3000952dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217386.2:c.322+28dup MANE Select | ENSP00000217386.2:n.322+28dup | |
| NM_000915.3:c.322+28dup | NP_000906.1:n.322+28dup | |
| XM_011529238.1:c.322+28dup | XP_011527540.1:n.322+28dup | |
| NM_000915.4:c.322+28dup MANE Select | NP_000906.1:n.322+28dup |