MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001489 (NFE)
Exomes Max Group AF
0.00001497 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228351314_228351324del , CM000663.2:g.228351314_228351324del | GRCh38 |
| NC_000001.10:g.228539015_228539025del , CM000663.1:g.228539015_228539025del | GRCh37 |
| NC_000001.9:g.226605638_226605648del | NCBI36 |
| NG_032122.1:g.148155_148165del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284548.16:c.18420-7_18423del | ||
| ENST00000570156.7:c.21291-7_21294del | ||
| ENST00000636476.2:c.18423-7_18426del | ||
| ENST00000662438.1:c.19965-7_19968del | ||
| ENST00000664561.1:c.1196-7_1199del | ||
| ENST00000664957.1:c.2342-7_2345del | ||
| ENST00000680850.1:c.21291-7_21294del | ||
| ENST00000284548.15:c.18420-7_18423del | ||
| ENST00000366707.8:c.21291-7_21294del | ||
| ENST00000422127.5:c.18420-7_18423del | ||
| ENST00000483539.2:c.4694-5504_4694-5494del | ||
| ENST00000570156.6:c.21291-7_21294del | ||
| NM_001098623.2:c.18420-7_18423del | ||
| NM_001271223.2:c.21291-7_21294del | ||
| NM_052843.3:c.18420-7_18423del | ||
| XM_005273287.3:c.21594-7_21597del | ||
| XM_005273288.3:c.21594-7_21597del | ||
| XM_005273289.3:c.21591-7_21594del | ||
| XM_005273290.3:c.21591-7_21594del | ||
| XM_005273291.3:c.21558-7_21561del | ||
| XM_005273292.3:c.21330-7_21333del | ||
| XM_005273293.3:c.21330-7_21333del | ||
| XM_005273294.3:c.21330-7_21333del | ||
| XM_005273295.3:c.21318-7_21321del | ||
| XM_005273296.3:c.21318-7_21321del | ||
| XM_005273297.3:c.21318-7_21321del | ||
| XM_005273298.3:c.21285-7_21288del | ||
| XM_005273299.3:c.21066-7_21069del | ||
| XM_005273300.3:c.21066-7_21069del | ||
| XM_005273301.3:c.21066-7_21069del | ||
| XM_005273302.3:c.21042-7_21045del | ||
| XM_005273304.3:c.20802-7_20805del | ||
| XM_005273305.3:c.20538-7_20541del | ||
| XM_005273307.3:c.20472-7_20475del | ||
| XM_005273309.3:c.21594-7_21597del | ||
| XM_005273310.3:c.21591-7_21594del | ||
| XM_006711819.2:c.21444-7_21447del | ||
| XM_006711820.2:c.21330-7_21333del | ||
| XM_006711821.2:c.21054-7_21057del | ||
| XM_006711822.2:c.21018-7_21021del | ||
| XM_006711823.2:c.21015-7_21018del | ||
| XM_006711824.2:c.20010-7_20013del | ||
| XM_006711825.2:c.18690-7_18693del | ||
| XM_006711826.2:c.21594-7_21597del | ||
| XM_006711827.2:c.19431-7_19434del | ||
| XM_006711828.2:c.21291-7_21294del | ||
| XM_006711829.2:c.19155-7_19158del | ||
| XM_011544290.1:c.21318-7_21321del | ||
| XM_011544291.1:c.21021-7_21024del | ||
| XM_011544292.1:c.20802-7_20805del | ||
| XM_011544293.1:c.20802-7_20805del | ||
| XM_011544294.1:c.20802-7_20805del | ||
| XM_011544295.1:c.20490-7_20493del | ||
| XM_011544296.1:c.19746-7_19749del | ||
| XM_011544297.1:c.19431-7_19434del | ||
| XM_011544299.1:c.19155-7_19158del | ||
| XM_005273287.5:c.21594-7_21597del | ||
| XM_005273291.5:c.21558-7_21561del | ||
| XM_005273298.5:c.21285-7_21288del | ||
| XM_005273307.5:c.20472-7_20475del | ||
| XM_006711822.4:c.21018-7_21021del | ||
| XM_006711823.4:c.21015-7_21018del | ||
| XM_006711827.4:c.19431-7_19434del | ||
| XM_006711829.4:c.19155-7_19158del | ||
| XM_011544297.3:c.19431-7_19434del | ||
| XM_011544299.3:c.19155-7_19158del | ||
| XM_017002443.2:c.21639-7_21642del | ||
| XM_017002444.2:c.21639-7_21642del | ||
| XM_017002445.2:c.21639-7_21642del | ||
| XM_017002446.2:c.21636-7_21639del | ||
| XM_017002447.2:c.21636-7_21639del | ||
| XM_017002448.2:c.21489-7_21492del | ||
| XM_017002449.2:c.21375-7_21378del | ||
| XM_017002450.2:c.21375-7_21378del | ||
| XM_017002451.2:c.21375-7_21378del | ||
| XM_017002452.2:c.21375-7_21378del | ||
| XM_017002453.2:c.21363-7_21366del | ||
| XM_017002454.2:c.21363-7_21366del | ||
| XM_017002455.2:c.21363-7_21366del | ||
| XM_017002456.2:c.21363-7_21366del | ||
| XM_017002457.2:c.21363-7_21366del | ||
| XM_017002458.2:c.21111-7_21114del | ||
| XM_017002459.2:c.21111-7_21114del | ||
| XM_017002460.2:c.21111-7_21114del | ||
| XM_017002461.2:c.21099-7_21102del | ||
| XM_017002462.2:c.21087-7_21090del | ||
| XM_017002463.2:c.21066-7_21069del | ||
| XM_017002464.2:c.21015-7_21018del | ||
| XM_017002465.2:c.20847-7_20850del | ||
| XM_017002466.2:c.20847-7_20850del | ||
| XM_017002467.2:c.20847-7_20850del | ||
| XM_017002468.2:c.20583-7_20586del | ||
| XM_017002469.2:c.20055-7_20058del | ||
| XM_017002470.2:c.18735-7_18738del | ||
| XM_017002471.2:c.21639-7_21642del | ||
| XM_017002472.2:c.21636-7_21639del | ||
| XM_017002473.2:c.21639-7_21642del | ||
| NM_052843.4:c.18420-7_18423del | ||
| NM_001271223.3:c.21291-7_21294del | ||
| NM_001386125.1:c.21291-7_21294del |