Linked Data
gnomAD v4:
3-147413362-ATCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413368_147413370del , CM000665.2:g.147413368_147413370del | GRCh38 |
| NC_000003.11:g.147131155_147131157del , CM000665.1:g.147131155_147131157del | GRCh37 |
| NC_000003.10:g.148613845_148613847del | NCBI36 |
| NG_015886.1:g.8975_8977del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1161_1163del MANE Select | ENSP00000282928.4:p.Ser388del | |
| ENST00000282928.4:c.1161_1163del | ENSP00000282928.4:p.Ser388del | |
| ENST00000472523.1:n.521+19426_521+19428del | ||
| ENST00000488404.5:c.227_229del | ||
| NM_003412.3:c.1161_1163del | NP_003403.2:p.Ser388del | |
| NM_003412.4:c.1161_1163del MANE Select | NP_003403.2:p.Ser388del |