ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
Glanzmann thrombasthenia
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47290277_47290280del , CM000679.2:g.47290277_47290280del | GRCh38 |
| NC_000017.10:g.45367643_45367646del , CM000679.1:g.45367643_45367646del | GRCh37 |
| NC_000017.9:g.42722642_42722645del | NCBI36 |
| NG_008332.2:g.41436_41439del , LRG_481:g.41436_41439del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.1125+3_1125+6del | ENSP00000513002.1:n.1125+3_1125+6del | |
| ENST00000559488.7:c.1125+3_1125+6del MANE Select | ENSP00000452786.2:n.1125+3_1125+6del | |
| ENST00000559488.5:c.1125+3_1125+6del | ENSP00000452786.1:n.1125+3_1125+6del | |
| ENST00000560629.1:c.1090+3_1090+6del | ||
| ENST00000571680.1:c.1125+3_1125+6del | ENSP00000461626.1:n.1125+3_1125+6del | |
| NM_000212.2:c.1125+3_1125+6del , LRG_481t1:c.1125+3_1125+6del | NP_000203.2:n.1125+3_1125+6del | |
| NM_000212.3:c.1125+3_1125+6del MANE Select | NP_000203.2:n.1125+3_1125+6del |