gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020867 (NFE)
Genomes Max Group AF
0.00025534 (NFE)
Exomes Max Group AF
0.00019991 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38071278_38071290del , CM000664.2:g.38071278_38071290del | GRCh38 |
| NC_000002.11:g.38298421_38298433del , CM000664.1:g.38298421_38298433del | GRCh37 |
| NC_000002.10:g.38151925_38151937del | NCBI36 |
| NG_008386.2:g.9812_9824del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1064_1076del | ENSP00000478839.2:p.Arg355HisfsTer? | |
| ENST00000610745.5:c.1064_1076del MANE Select | ENSP00000478561.1:p.Arg355HisfsTer? | |
| ENST00000492443.1:n.442_454del | ||
| ENST00000494864.1:c.-50_-38del | ENSP00000479876.1:n.-50_-38del | |
| ENST00000610745.4:c.1064_1076del | ENSP00000478561.1:p.Arg355HisfsTer? | |
| ENST00000613082.1:n.459_471del | ||
| ENST00000614273.1:c.1064_1076del | ENSP00000483678.1:p.Arg355HisfsTer? | |
| NM_000104.3:c.1064_1076del | NP_000095.2:p.Arg355HisfsTer? | |
| NM_000104.4:c.1064_1076del MANE Select | NP_000095.2:p.Arg355HisfsTer? |