ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4449263_4449266del , CM000665.2:g.4449263_4449266del | GRCh38 |
| NC_000003.11:g.4490947_4490950del , CM000665.1:g.4490947_4490950del | GRCh37 |
| NC_000003.10:g.4465947_4465950del | NCBI36 |
| NG_016225.1:g.23022_23025del | |
| NG_016225.2:g.23022_23025del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272902.10:c.519+5_519+8del | ||
| ENST00000272902.9:c.519+5_519+8del | ||
| ENST00000383843.9:c.444+3615_444+3618del | ENSP00000373355.5:n.444+3615_444+3618del | |
| ENST00000405420.2:c.519+5_519+8del | ||
| ENST00000448413.5:c.519+5_519+8del | ||
| ENST00000458465.6:c.444+3615_444+3618del | ENSP00000410060.2:n.444+3615_444+3618del | |
| NM_001164674.1:c.444+3615_444+3618del | NP_001158146.1:n.444+3615_444+3618del | |
| NM_001164675.1:c.519+5_519+8del | ||
| NM_182760.3:c.519+5_519+8del | ||
| XM_011533623.1:c.519+5_519+8del | ||
| XM_011533624.1:c.519+5_519+8del | ||
| XM_011533625.1:c.519+5_519+8del | ||
| XM_011533626.1:c.519+5_519+8del | ||
| XM_011533624.3:c.519+5_519+8del | ||
| XM_011533625.3:c.519+5_519+8del | ||
| XM_011533626.3:c.519+5_519+8del | ||
| XM_017006252.2:c.519+5_519+8del | ||
| XM_017006253.1:c.444+3615_444+3618del | XP_016861742.1:n.444+3615_444+3618del | |
| XM_017006254.2:c.519+5_519+8del | ||
| XM_017006255.2:c.519+5_519+8del | ||
| NM_182760.4:c.519+5_519+8del | ||
| NM_001164674.2:c.444+3615_444+3618del | NP_001158146.1:n.444+3615_444+3618del | |
| NM_001164675.2:c.519+5_519+8del |