ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00373892 (AFR)
Genomes Max Group AF
0.00397017 (AFR)
Exomes Max Group AF
0.00311806 (AFR)
MyVariant.info:
GRCh38
chr10:g.74112025_74112027del
GRCh38
chr10:g.74112024_74112026del
GRCh37
chr10:g.75871783_75871785del
GRCh37
chr10:g.75871782_75871784del
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74112025_74112027del , CM000672.2:g.74112025_74112027del | GRCh38 |
| NC_000010.10:g.75871783_75871785del , CM000672.1:g.75871783_75871785del | GRCh37 |
| NC_000010.9:g.75541789_75541791del | NCBI36 |
| NG_008868.1:g.118912_118914del , LRG_383:g.118912_118914del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.2862_2864del MANE Select | ENSP00000211998.5:p.Leu955del | |
| ENST00000211998.8:c.2862_2864del | ENSP00000211998.4:p.Leu955del | |
| ENST00000372755.7:c.2746-2159_2746-2157del | ENSP00000361841.3:n.2746-2159_2746-2157del | |
| ENST00000436396.1:c.1878_1880del | ENSP00000415489.1:p.Leu627del | |
| ENST00000623461.3:n.5549-2159_5549-2157del | ||
| ENST00000624354.3:c.*2617_*2619del | ENSP00000485551.1:n.*2617_*2619del | |
| NM_003373.3:c.2746-2159_2746-2157del | NP_003364.1:n.2746-2159_2746-2157del | |
| NM_014000.2:c.2862_2864del , LRG_383t1:c.2862_2864del | NP_054706.1:p.Leu955del | |
| XM_005270142.1:c.2865_2867del | XP_005270199.1:p.Leu956del | |
| XM_005270143.1:c.2749-2159_2749-2157del | XP_005270200.1:n.2749-2159_2749-2157del | |
| NM_003373.4:c.2746-2159_2746-2157del | NP_003364.1:n.2746-2159_2746-2157del | |
| NM_014000.3:c.2862_2864del MANE Select | NP_054706.1:p.Leu955del |