Linked Data
gnomAD v4:
17-47283406-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283407dup , CM000679.2:g.47283407dup | GRCh38 |
| NC_000017.10:g.45360773dup , CM000679.1:g.45360773dup | GRCh37 |
| NC_000017.9:g.42715772dup | NCBI36 |
| NG_008332.2:g.34566dup , LRG_481:g.34566dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.219dup | ENSP00000513002.1:p.Asn74Ter | |
| ENST00000559488.7:c.219dup MANE Select | ENSP00000452786.2:p.Asn74Ter | |
| ENST00000559488.5:c.219dup | ENSP00000452786.1:p.Asn74Ter | |
| ENST00000560629.1:c.184dup | ||
| ENST00000571680.1:c.219dup | ENSP00000461626.1:p.Asn74Ter | |
| NM_000212.2:c.219dup , LRG_481t1:c.219dup | NP_000203.2:p.Asn74Ter | |
| NM_000212.3:c.219dup MANE Select | NP_000203.2:p.Asn74Ter |