gnomAD v2:
gnomAD v4:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35119160_35119161del , CM000679.2:g.35119160_35119161del | GRCh38 |
| NC_000017.10:g.33446179_33446180del , CM000679.1:g.33446179_33446180del | GRCh37 |
| NC_000017.9:g.30470292_30470293del | NCBI36 |
| NG_031858.1:g.5709_5710del , LRG_516:g.5709_5710del | |
| NG_054719.1:g.2582_2583del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.94_95del | ENSP00000468273.3:p.Val32PhefsTer? | |
| ENST00000587405.6:c.-95+2130_-95+2131del | ENSP00000466478.2:n.-95+2130_-95+2131del | |
| ENST00000590016.6:c.94_95del | ENSP00000466399.1:p.Val32PhefsTer? | |
| ENST00000590631.2:n.386_387del | ||
| ENST00000592577.6:c.-264_-263del | ENSP00000466839.2:n.-264_-263del | |
| ENST00000345365.11:c.94_95del MANE Select | ENSP00000338790.6:p.Val32PhefsTer? | |
| ENST00000335858.11:c.94_95del | ENSP00000338408.6:p.Val32PhefsTer30 | |
| ENST00000345365.10:c.94_95del | ENSP00000338790.6:p.Val32PhefsTer? | |
| ENST00000394589.8:c.94_95del | ENSP00000378090.4:p.Val32PhefsTer? | |
| ENST00000415064.6:n.244_245del | ||
| ENST00000460118.6:c.-258_-257del | ENSP00000464356.2:n.-258_-257del | |
| ENST00000585947.5:n.159+2130_159+2131del | ||
| ENST00000585982.5:n.189_190del | ||
| ENST00000586044.5:c.94_95del | ENSP00000465584.1:p.Val32PhefsTer? | |
| ENST00000586210.5:c.94_95del | ENSP00000465612.1:p.Val32PhefsTer? | |
| ENST00000587405.5:c.-95+2130_-95+2131del | ENSP00000466478.1:n.-95+2130_-95+2131del | |
| ENST00000587977.5:c.94_95del | ENSP00000466587.1:p.Val32PhefsTer? | |
| ENST00000587982.5:n.191+2130_191+2131del | ||
| ENST00000588372.5:c.-95+2130_-95+2131del | ENSP00000468764.1:n.-95+2130_-95+2131del | |
| ENST00000588594.5:c.94_95del | ENSP00000465366.1:p.Val32PhefsTer? | |
| ENST00000589506.1:n.305_306del | ||
| ENST00000590016.5:c.94_95del | ENSP00000466399.1:p.Val32PhefsTer? | |
| ENST00000590631.1:c.-102_-101del | ENSP00000465033.1:n.-102_-101del | |
| ENST00000591723.5:c.-134+2130_-134+2131del | ENSP00000467986.1:n.-134+2130_-134+2131del | |
| ENST00000592181.1:c.-145_-144del | ENSP00000464799.1:n.-145_-144del | |
| ENST00000592430.5:n.232+2130_232+2131del | ||
| ENST00000592577.5:c.100_101del | ENSP00000466839.1:p.Val34PhefsTer? | |
| ENST00000593039.5:c.3+2130_3+2131del | ENSP00000466834.1:n.3+2130_3+2131del | |
| NM_001142571.1:c.94_95del | NP_001136043.1:p.Val32PhefsTer? | |
| NM_002878.3:c.94_95del , LRG_516t1:c.94_95del | NP_002869.3:p.Val32PhefsTer? | |
| NM_133629.2:c.94_95del | NP_598332.1:p.Val32PhefsTer30 | |
| NR_037711.1:n.350_351del | ||
| NR_037712.1:n.350_351del | ||
| NR_037714.1:n.232+2130_232+2131del | ||
| NM_001142571.2:c.94_95del | NP_001136043.1:p.Val32PhefsTer? | |
| NM_133629.3:c.94_95del | NP_598332.1:p.Val32PhefsTer30 | |
| NR_037711.2:n.239_240del | ||
| NR_037712.2:n.239_240del | ||
| NM_002878.4:c.94_95del MANE Select | NP_002869.3:p.Val32PhefsTer? |