MyVariant.info:
GRCh38
chr13:g.20189257_20189270del
GRCh38
chr13:g.20189256_20189269del
GRCh37
chr13:g.20763395_20763408del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001951 (NFE)
Genomes Max Group AF
0.000218 (NFE)
Exomes Max Group AF
0.00018818 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189258_20189271del , CM000675.2:g.20189258_20189271del | GRCh38 |
| NC_000013.10:g.20763397_20763410del , CM000675.1:g.20763397_20763410del | GRCh37 |
| NC_000013.9:g.19661397_19661410del | NCBI36 |
| NG_008358.1:g.8707_8720del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.313_326del | ENSP00000372295.1:p.Lys105GlyfsTer5 | |
| ENST00000382848.5:c.313_326del MANE Select | ENSP00000372299.4:p.Lys105GlyfsTer5 | |
| ENST00000382844.1:c.313_326del | ENSP00000372295.1:p.Lys105GlyfsTer5 | |
| ENST00000382848.4:c.313_326del | ENSP00000372299.4:p.Lys105GlyfsTer5 | |
| NM_004004.5:c.313_326del | NP_003995.2:p.Lys105GlyfsTer5 | |
| XM_011535049.1:c.313_326del | XP_011533351.1:p.Lys105GlyfsTer5 | |
| XM_011535049.2:c.313_326del | XP_011533351.1:p.Lys105GlyfsTer5 | |
| NM_004004.6:c.313_326del MANE Select | NP_003995.2:p.Lys105GlyfsTer5 |