ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000904 (NFE)
Exomes Max Group AF
0.00000879 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13810184_13810204del , CM000667.2:g.13810184_13810204del | GRCh38 |
| NC_000005.9:g.13810293_13810313del , CM000667.1:g.13810293_13810313del | GRCh37 |
| NC_000005.8:g.13863293_13863313del | NCBI36 |
| NG_013081.1:g.139281_139301del | |
| NG_013081.2:g.139281_139301del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.7468_7488del MANE Select | ENSP00000265104.4:p.Trp2490_Leu2496del | |
| ENST00000681290.1:c.7423_7443del | ENSP00000505288.1:p.Trp2475_Leu2481del | |
| ENST00000265104.4:c.7468_7488del | ENSP00000265104.4:p.Trp2490_Leu2496del | |
| ENST00000512443.1:n.324_344del | ||
| NM_001369.2:c.7468_7488del | NP_001360.1:p.Trp2490_Leu2496del | |
| XM_005248262.2:c.7423_7443del | XP_005248319.1:p.Trp2475_Leu2481del | |
| XM_011513990.1:c.7468_7488del | XP_011512292.1:p.Trp2490_Leu2496del | |
| XR_925598.1:n.7675_7695del | ||
| XM_005248262.3:c.7576_7596del | XP_005248319.2:p.Trp2526_Leu2532del | |
| XM_017009177.1:c.7576_7596del | XP_016864666.1:p.Trp2526_Leu2532del | |
| XM_017009178.1:c.6481_6501del | XP_016864667.1:p.Trp2161_Leu2167del | |
| XM_017009179.2:c.6481_6501del | XP_016864668.1:p.Trp2161_Leu2167del | |
| XM_017009180.1:c.7576_7596del | XP_016864669.1:p.Trp2526_Leu2532del | |
| XM_017009181.1:c.7576_7596del | XP_016864670.1:p.Trp2526_Leu2532del | |
| XM_017009182.1:c.7576_7596del | XP_016864671.1:p.Trp2526_Leu2532del | |
| XM_017009183.1:c.7576_7596del | XP_016864672.1:p.Trp2526_Leu2532del | |
| XM_017009184.1:c.7576_7596del | XP_016864673.1:p.Trp2526_Leu2532del | |
| XM_017009185.1:c.2665_2685del | XP_016864674.1:p.Trp889_Leu895del | |
| XM_017009186.1:c.2218_2238del | XP_016864675.1:p.Trp740_Leu746del | |
| XM_017009187.1:c.7576_7596del | XP_016864676.1:p.Trp2526_Leu2532del | |
| XM_017009188.1:c.1555_1575del | XP_016864677.1:p.Trp519_Leu525del | |
| XM_024454388.1:c.6481_6501del | XP_024310156.1:p.Trp2161_Leu2167del | |
| XM_024454389.1:c.6070_6090del | XP_024310157.1:p.Trp2024_Leu2030del | |
| XR_001742034.1:n.7593_7613del | ||
| XR_001742035.1:n.7593_7613del | ||
| NM_001369.3:c.7468_7488del MANE Select | NP_001360.1:p.Trp2490_Leu2496del |