Linked Data
gnomAD v4:
3-190388337-ATCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388343_190388345del , CM000665.2:g.190388343_190388345del | GRCh38 |
| NC_000003.11:g.190106132_190106134del , CM000665.1:g.190106132_190106134del | GRCh37 |
| NC_000003.10:g.191588826_191588828del | NCBI36 |
| NG_008149.1:g.5292_5294del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264734.3:c.14_16del MANE Select | ENSP00000264734.3:p.Leu5del | |
| ENST00000456423.2:c.14_16del | ENSP00000414136.2:p.Leu5del | |
| ENST00000264734.2:c.224_226del | ENSP00000264734.2:p.Leu75del | |
| ENST00000456423.1:c.224_226del | ENSP00000414136.1:p.Leu75del | |
| ENST00000468220.1:n.306+13740_306+13742del | ||
| NM_006580.3:c.224_226del | NP_006571.1:p.Leu75del | |
| NM_001378492.1:c.14_16del | NP_001365421.1:p.Leu5del | |
| NM_001378493.1:c.14_16del | NP_001365422.1:p.Leu5del | |
| NM_006580.4:c.14_16del MANE Select | NP_006571.2:p.Leu5del |