gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002313 (NFE)
Exomes Max Group AF
0.00002455 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35101357del , CM000679.2:g.35101357del | GRCh38 |
| NC_000017.10:g.33428376del , CM000679.1:g.33428376del | GRCh37 |
| NC_000017.9:g.30452489del | NCBI36 |
| NG_031858.1:g.23514del , LRG_516:g.23514del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.613del | ENSP00000468273.3:p.His205ThrfsTer2 | |
| ENST00000587405.6:c.391del | ENSP00000466478.2:p.His131ThrfsTer2 | |
| ENST00000590016.6:c.808del | ENSP00000466399.1:p.His270ThrfsTer2 | |
| ENST00000592577.6:c.391del | ENSP00000466839.2:p.His131ThrfsTer2 | |
| ENST00000345365.11:c.748del MANE Select | ENSP00000338790.6:p.His250ThrfsTer2 | |
| ENST00000335858.11:c.412del | ENSP00000338408.6:p.His138ThrfsTer2 | |
| ENST00000345365.10:c.748del | ENSP00000338790.6:p.His250ThrfsTer2 | |
| ENST00000394589.8:c.748del | ENSP00000378090.4:p.His250ThrfsTer2 | |
| ENST00000460118.6:c.217del | ENSP00000464356.2:p.His73ThrfsTer2 | |
| ENST00000586044.5:c.*479del | ENSP00000465584.1:n.*479del | |
| ENST00000586210.5:c.*342del | ENSP00000465612.1:n.*342del | |
| ENST00000587405.5:c.391del | ENSP00000466478.1:p.His131ThrfsTer2 | |
| ENST00000587977.5:c.*488del | ENSP00000466587.1:n.*488del | |
| ENST00000588372.5:c.*231del | ENSP00000468764.1:n.*231del | |
| ENST00000588594.5:c.*344del | ENSP00000465366.1:n.*344del | |
| ENST00000590016.5:c.808del | ENSP00000466399.1:p.His270ThrfsTer2 | |
| ENST00000591723.5:c.217del | ENSP00000467986.1:p.His73ThrfsTer2 | |
| ENST00000592181.1:c.391del | ENSP00000464799.1:p.His131ThrfsTer2 | |
| ENST00000593039.5:c.271del | ENSP00000466834.1:p.His91ThrfsTer2 | |
| NM_001142571.1:c.808del | NP_001136043.1:p.His270ThrfsTer2 | |
| NM_002878.3:c.748del , LRG_516t1:c.748del | NP_002869.3:p.His250ThrfsTer2 | |
| NM_133629.2:c.412del | NP_598332.1:p.His138ThrfsTer2 | |
| NR_037711.1:n.885del | ||
| NR_037712.1:n.750del | ||
| NR_037714.1:n.500del | ||
| NM_001142571.2:c.808del | NP_001136043.1:p.His270ThrfsTer2 | |
| NM_133629.3:c.412del | NP_598332.1:p.His138ThrfsTer2 | |
| NR_037711.2:n.774del | ||
| NR_037712.2:n.639del | ||
| NM_002878.4:c.748del MANE Select | NP_002869.3:p.His250ThrfsTer2 |