Linked Data
gnomAD v4:
3-147413477-C-CCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413486_147413488dup , CM000665.2:g.147413486_147413488dup | GRCh38 |
| NC_000003.11:g.147131273_147131275dup , CM000665.1:g.147131273_147131275dup | GRCh37 |
| NC_000003.10:g.148613963_148613965dup | NCBI36 |
| NG_015886.1:g.9093_9095dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1279_1281dup MANE Select | ENSP00000282928.4:p.Ser427_Ala428insSer | |
| ENST00000282928.4:c.1279_1281dup | ENSP00000282928.4:p.Ser427_Ala428insSer | |
| ENST00000472523.1:n.521+19544_521+19546dup | ||
| ENST00000488404.5:c.345_347dup | ||
| NM_003412.3:c.1279_1281dup | NP_003403.2:p.Ser427_Ala428insSer | |
| NM_003412.4:c.1279_1281dup MANE Select | NP_003403.2:p.Ser427_Ala428insSer |