Linked Data
dbSNP Id:
rs926808324
gnomAD v3:
20-10673534-T-TGCGCCGC
gnomAD v4:
20-10673534-T-TGCGCCGC
MyVariant Identifiers:
chr20:g.10654182_10654183insGCGCCGC (hg19)
chr20:g.10673534_10673535insGCGCCGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10673543_10673549dup , CM000682.2:g.10673543_10673549dup | GRCh38 |
| NC_000020.10:g.10654191_10654197dup , CM000682.1:g.10654191_10654197dup | GRCh37 |
| NC_000020.9:g.10602191_10602197dup | NCBI36 |
| NG_007496.1:g.5506_5512dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.-11_-5dup MANE Select | ENSP00000254958.4:n.-11_-5dup | |
| ENST00000254958.9:c.-11_-5dup | ENSP00000254958.4:n.-11_-5dup | |
| NM_000214.2:c.-11_-5dup | NP_000205.1:n.-11_-5dup | |
| NM_000214.3:c.-11_-5dup MANE Select | NP_000205.1:n.-11_-5dup |