ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179218307_179218308delinsCT , CM000665.2:g.179218307_179218308delinsCT | GRCh38 |
| NC_000003.11:g.178936095_178936096delinsCT , CM000665.1:g.178936095_178936096delinsCT | GRCh37 |
| NC_000003.10:g.180418789_180418790delinsCT | NCBI36 |
| NG_012113.2:g.74785_74786delinsCT , LRG_310:g.74785_74786delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1637_1638delinsCT MANE Select | ENSP00000263967.3:p.Gln546Pro | |
| ENST00000462255.2:n.99_100delinsCT | ||
| ENST00000643187.1:c.1637_1638delinsCT | ENSP00000493507.1:p.Gln546Pro | |
| ENST00000674534.1:n.1391_1392delinsCT | ||
| ENST00000674622.1:c.140_141delinsCT | ENSP00000502417.1:p.Gln47Pro | |
| ENST00000675467.1:n.4444_4445delinsCT | ||
| ENST00000675786.1:c.*204_*205delinsCT | ENSP00000502323.1:n.*204_*205delinsCT | |
| ENST00000263967.3:c.1637_1638delinsCT | ENSP00000263967.3:p.Gln546Pro | |
| NM_006218.2:c.1637_1638delinsCT , LRG_310t1:c.1637_1638delinsCT | NP_006209.2:p.Gln546Pro | |
| XM_006713658.2:c.1637_1638delinsCT | XP_006713721.1:p.Gln546Pro | |
| XM_011512894.1:c.1637_1638delinsCT | XP_011511196.1:p.Gln546Pro | |
| NM_006218.3:c.1637_1638delinsCT | NP_006209.2:p.Gln546Pro | |
| XM_006713658.4:c.1637_1638delinsCT | XP_006713721.1:p.Gln546Pro | |
| XM_011512894.2:c.1637_1638delinsCT | XP_011511196.1:p.Gln546Pro | |
| NM_006218.4:c.1637_1638delinsCT MANE Select | NP_006209.2:p.Gln546Pro |