ClinGen Evidence Repository:
Classification
Uncertain Significance
Condition
Glanzmann thrombasthenia
MyVariant.info:
gnomAD v4:
Joint Max Group AF
0.00002313 (NFE)
Exomes Max Group AF
0.00002455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372391_44372392dup , CM000679.2:g.44372391_44372392dup | GRCh38 |
| NC_000017.10:g.42449759_42449760dup , CM000679.1:g.42449759_42449760dup | GRCh37 |
| NC_000017.9:g.39805285_39805286dup | NCBI36 |
| NG_008331.1:g.22114_22115dup , LRG_479:g.22114_22115dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.3092_3093dup MANE Select | ENSP00000262407.5:p.Glu1032TrpfsTer? | |
| ENST00000648408.1:c.2406_2407dup | ||
| ENST00000262407.5:c.3092_3093dup | ENSP00000262407.5:p.Glu1032TrpfsTer? | |
| ENST00000587295.5:c.285_286dup | ||
| ENST00000588098.1:c.69_70dup | ||
| NM_000419.3:c.3092_3093dup , LRG_479t1:c.3092_3093dup | NP_000410.2:p.Glu1032TrpfsTer? | |
| XM_011524749.1:c.2990_2991dup | XP_011523051.1:p.Glu998TrpfsTer? | |
| XM_011524750.1:c.2975_2976dup | XP_011523052.1:p.Glu993TrpfsTer? | |
| NM_000419.4:c.3092_3093dup | NP_000410.2:p.Glu1032TrpfsTer? | |
| NM_000419.5:c.3092_3093dup MANE Select | NP_000410.2:p.Glu1032TrpfsTer? |