gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570638del , CM000673.2:g.2570638del | GRCh38 |
| NC_000011.9:g.2591868del , CM000673.1:g.2591868del | GRCh37 |
| NC_000011.8:g.2548444del | NCBI36 |
| NG_008935.1:g.130648del , LRG_287:g.130648del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.227del | ENSP00000434560.2:p.Leu76ArgfsTer? | |
| ENST00000646564.2:c.478-12797del | ENSP00000495806.2:n.478-12797del | |
| ENST00000155840.12:c.488del MANE Select | ENSP00000155840.2:p.Leu163ArgfsTer? | |
| ENST00000335475.6:c.107del | ENSP00000334497.5:p.Leu36ArgfsTer? | |
| ENST00000646564.1:c.124-12797del | ENSP00000495806.1:n.124-12797del | |
| ENST00000155840.9:c.488del | ENSP00000155840.2:p.Leu163ArgfsTer? | |
| ENST00000335475.5:c.107del | ENSP00000334497.5:p.Leu36ArgfsTer? | |
| ENST00000496887.6:c.227del | ENSP00000434560.1:p.Leu76ArgfsTer? | |
| NM_000218.2:c.488del , LRG_287t1:c.488del | NP_000209.2:p.Leu163ArgfsTer? | |
| NM_181798.1:c.107del , LRG_287t2:c.107del | NP_861463.1:p.Leu36ArgfsTer? | |
| NM_000218.3:c.488del MANE Select | NP_000209.2:p.Leu163ArgfsTer? |