MyVariant.info:
GRCh38
chr19:g.45364834_45364837del
GRCh38
chr19:g.45364833_45364836del
GRCh37
chr19:g.45868091_45868094del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015197 (NFE)
Genomes Max Group AF
0.00006823 (EAS)
Exomes Max Group AF
0.00015328 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45364835_45364838del , CM000681.2:g.45364835_45364838del | GRCh38 |
| NC_000019.9:g.45868093_45868096del , CM000681.1:g.45868093_45868096del | GRCh37 |
| NC_000019.8:g.50559933_50559936del | NCBI36 |
| NG_007067.2:g.10752_10755del , LRG_461:g.10752_10755del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.594+2_594+5del | ||
| ENST00000682414.1:c.594+2_594+5del | ||
| ENST00000682508.1:n.623+2_623+5del | ||
| ENST00000684218.1:c.594+2_594+5del | ||
| ENST00000684407.1:c.471+2_471+5del | ||
| ENST00000684458.1:c.594+2_594+5del | ||
| ENST00000391945.10:c.594+2_594+5del | ||
| ENST00000586131.6:c.522+2_522+5del | ||
| ENST00000646507.1:n.691+2_691+5del | ||
| ENST00000391941.6:c.522+2_522+5del | ||
| ENST00000391944.7:c.361-289_361-286del | ENSP00000375808.3:n.361-289_361-286del | |
| ENST00000391945.8:c.594+2_594+5del | ||
| ENST00000485403.6:c.522+2_522+5del | ||
| ENST00000586131.5:c.522+2_522+5del | ||
| ENST00000586441.1:n.586+2_586+5del | ||
| ENST00000586737.5:n.356-505_356-502del | ||
| ENST00000591309.5:c.361-505_361-502del | ENSP00000465207.1:n.361-505_361-502del | |
| NM_000400.3:c.594+2_594+5del , LRG_461t1:c.594+2_594+5del | ||
| NM_001130867.1:c.522+2_522+5del | ||
| XM_011526611.1:c.516+2_516+5del | ||
| XR_935763.1:n.641+2_641+5del | ||
| XM_011526611.2:c.516+2_516+5del | ||
| XM_017026467.1:c.471+2_471+5del | ||
| XR_001753633.2:n.641+2_641+5del | ||
| XR_001753634.2:n.641+2_641+5del | ||
| NM_000400.4:c.594+2_594+5del | ||
| NM_001130867.2:c.522+2_522+5del |