gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000446 (AFR)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001004 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88071824_88071828del , CM000674.2:g.88071824_88071828del | GRCh38 |
| NC_000012.11:g.88465601_88465605del , CM000674.1:g.88465601_88465605del | GRCh37 |
| NC_000012.10:g.86989732_86989736del | NCBI36 |
| NG_008417.1:g.75394_75398del | |
| NG_008417.2:g.75394_75398del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.5813_5817del | ENSP00000308021.8:p.Thr1938AsnfsTer16 | |
| ENST00000547691.8:c.3097_3101del | ||
| ENST00000552810.6:c.5813_5817del MANE Select | ENSP00000448012.1:p.Thr1938AsnfsTer16 | |
| ENST00000672414.2:c.*3984_*3988del | ENSP00000500729.1:n.*3984_*3988del | |
| ENST00000672647.1:n.4173_4177del | ||
| ENST00000673058.2:c.5813_5817del | ENSP00000500665.2:p.Thr1938AsnfsTer16 | |
| ENST00000674971.1:c.5813_5817del | ENSP00000502194.1:p.Thr1938AsnfsTer16 | |
| ENST00000675230.1:c.5792_5796del | ENSP00000502503.1:p.Thr1931AsnfsTer16 | |
| ENST00000675408.1:c.5813_5817del | ENSP00000502298.1:p.Thr1938AsnfsTer16 | |
| ENST00000675476.1:c.6674_6678del | ENSP00000502161.1:p.Thr2225AsnfsTer16 | |
| ENST00000675628.1:n.6040_6044del | ||
| ENST00000675794.1:c.*3984_*3988del | ENSP00000502841.1:n.*3984_*3988del | |
| ENST00000675833.1:c.6581_6585del | ENSP00000502559.1:p.Thr2194AsnfsTer16 | |
| ENST00000675894.1:n.2118_2122del | ||
| ENST00000676074.1:c.5813_5817del | ENSP00000502079.1:p.Thr1938AsnfsTer16 | |
| ENST00000676181.1:n.4741_4745del | ||
| ENST00000676363.1:n.11539_11543del | ||
| ENST00000676448.1:c.*3726_*3730del | ENSP00000501987.1:n.*3726_*3730del | |
| ENST00000309041.11:c.5819_5823del | ENSP00000308021.7:p.Thr1940AsnfsTer16 | |
| ENST00000547691.6:c.2993_2997del | ENSP00000446905.1:p.Thr998AsnfsTer16 | |
| ENST00000552810.5:c.5813_5817del | ENSP00000448012.1:p.Thr1938AsnfsTer16 | |
| NM_025114.3:c.5813_5817del | NP_079390.3:p.Thr1938AsnfsTer16 | |
| XM_011538756.1:c.6674_6678del | XP_011537058.1:p.Thr2225AsnfsTer16 | |
| XM_011538757.1:c.6674_6678del | XP_011537059.1:p.Thr2225AsnfsTer16 | |
| XM_011538758.1:c.6674_6678del | XP_011537060.1:p.Thr2225AsnfsTer16 | |
| XM_011538759.1:c.6674_6678del | XP_011537061.1:p.Thr2225AsnfsTer16 | |
| XM_011538760.1:c.6674_6678del | XP_011537062.1:p.Thr2225AsnfsTer16 | |
| XM_011538761.1:c.6674_6678del | XP_011537063.1:p.Thr2225AsnfsTer16 | |
| XM_011538762.1:c.5906_5910del | XP_011537064.1:p.Thr1969AsnfsTer16 | |
| XM_011538763.1:c.5813_5817del | XP_011537065.1:p.Thr1938AsnfsTer16 | |
| XM_011538764.1:c.6674_6678del | XP_011537066.1:p.Thr2225AsnfsTer16 | |
| XM_011538765.1:c.6674_6678del | XP_011537067.1:p.Thr2225AsnfsTer16 | |
| XM_011538766.1:c.5135_5139del | XP_011537068.1:p.Thr1712AsnfsTer16 | |
| XR_945163.1:n.968-10489_968-10485del | ||
| XM_011538756.3:c.6674_6678del | XP_011537058.1:p.Thr2225AsnfsTer16 | |
| XM_011538757.3:c.6674_6678del | XP_011537059.1:p.Thr2225AsnfsTer16 | |
| XM_011538758.3:c.6674_6678del | XP_011537060.1:p.Thr2225AsnfsTer16 | |
| XM_011538759.2:c.6674_6678del | XP_011537061.1:p.Thr2225AsnfsTer16 | |
| XM_011538760.2:c.6674_6678del | XP_011537062.1:p.Thr2225AsnfsTer16 | |
| XM_011538761.2:c.6674_6678del | XP_011537063.1:p.Thr2225AsnfsTer16 | |
| XM_011538762.3:c.5906_5910del | XP_011537064.1:p.Thr1969AsnfsTer16 | |
| XM_011538763.3:c.5813_5817del | XP_011537065.1:p.Thr1938AsnfsTer16 | |
| XM_011538764.3:c.6674_6678del | XP_011537066.1:p.Thr2225AsnfsTer16 | |
| XM_011538765.3:c.6674_6678del | XP_011537067.1:p.Thr2225AsnfsTer16 | |
| XM_011538766.3:c.5135_5139del | XP_011537068.1:p.Thr1712AsnfsTer16 | |
| XM_017019980.2:c.6674_6678del | XP_016875469.1:p.Thr2225AsnfsTer16 | |
| XM_017019981.2:c.6674_6678del | XP_016875470.1:p.Thr2225AsnfsTer16 | |
| XM_017019982.1:c.6674_6678del | XP_016875471.1:p.Thr2225AsnfsTer16 | |
| XM_017019983.2:c.5792_5796del | XP_016875472.1:p.Thr1931AsnfsTer16 | |
| XR_001748869.1:n.7018_7022del | ||
| XR_001748870.2:n.7018_7022del | ||
| NM_025114.4:c.5813_5817del MANE Select | NP_079390.3:p.Thr1938AsnfsTer16 |