Linked Data
dbSNP Id:
rs1427006148
gnomAD v3:
22-31861278-T-TCCTTC
gnomAD v4:
22-31861278-T-TCCTTC
MyVariant Identifiers:
chr22:g.32257264_32257265insCCTTC (hg19)
chr22:g.31861278_31861279insCCTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.31861281_31861285dup , CM000684.2:g.31861281_31861285dup | GRCh38 |
| NC_000022.10:g.32257267_32257271dup , CM000684.1:g.32257267_32257271dup | GRCh37 |
| NC_000022.9:g.30587267_30587271dup | NCBI36 |
| NG_034067.1:g.112331_112335dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382112.8:c.3265-87_3265-83dup | ENSP00000371546.4:n.3265-87_3265-83dup | |
| ENST00000400246.7:c.3030+3728_3030+3732dup | ENSP00000383105.3:n.3030+3728_3030+3732dup | |
| ENST00000400248.7:c.3237+3728_3237+3732dup | ENSP00000383107.1:n.3237+3728_3237+3732dup | |
| ENST00000400249.7:c.3264+3728_3264+3732dup | ENSP00000383108.3:n.3264+3728_3264+3732dup | |
| ENST00000433147.2:c.3181-87_3181-83dup | ENSP00000410544.2:n.3181-87_3181-83dup | |
| ENST00000448753.6:c.1321-87_1321-83dup | ENSP00000402173.1:n.1321-87_1321-83dup | |
| ENST00000535622.6:c.3030+3728_3030+3732dup | ENSP00000440210.1:n.3030+3728_3030+3732dup | |
| ENST00000642684.1:c.*2957+3728_*2957+3732dup | ENSP00000494554.1:n.*2957+3728_*2957+3732dup | |
| ENST00000642696.1:c.3237+3728_3237+3732dup | ENSP00000495917.1:n.3237+3728_3237+3732dup | |
| ENST00000642771.1:c.*1276-87_*1276-83dup | ENSP00000496278.1:n.*1276-87_*1276-83dup | |
| ENST00000643021.1:n.289+3728_289+3732dup | ||
| ENST00000643097.1:n.196-87_196-83dup | ||
| ENST00000643395.1:c.3030+3728_3030+3732dup | ENSP00000496630.1:n.3030+3728_3030+3732dup | |
| ENST00000643751.2:c.3265-87_3265-83dup | ENSP00000495496.1:n.3265-87_3265-83dup | |
| ENST00000644162.1:c.*1893-87_*1893-83dup | ENSP00000495371.1:n.*1893-87_*1893-83dup | |
| ENST00000644331.1:c.3264+3728_3264+3732dup | ENSP00000494406.1:n.3264+3728_3264+3732dup | |
| ENST00000644690.1:n.186+3728_186+3732dup | ||
| ENST00000645407.1:c.3288+3728_3288+3732dup | ENSP00000496252.1:n.3288+3728_3288+3732dup | |
| ENST00000645494.1:c.*1249-87_*1249-83dup | ENSP00000495338.1:n.*1249-87_*1249-83dup | |
| ENST00000645560.1:c.3031-87_3031-83dup | ENSP00000495544.1:n.3031-87_3031-83dup | |
| ENST00000645711.1:c.3238-87_3238-83dup | ENSP00000493489.1:n.3238-87_3238-83dup | |
| ENST00000645755.1:c.*2136+3728_*2136+3732dup | ENSP00000495873.1:n.*2136+3728_*2136+3732dup | |
| ENST00000645893.1:n.2122-87_2122-83dup | ||
| ENST00000646135.1:n.737-87_737-83dup | ||
| ENST00000646465.1:c.3031-87_3031-83dup | ENSP00000495655.1:n.3031-87_3031-83dup | |
| ENST00000646515.1:c.3265-87_3265-83dup | ENSP00000494700.1:n.3265-87_3265-83dup | |
| ENST00000646701.1:c.1786+42056_1786+42060dup | ENSP00000496158.1:n.1786+42056_1786+42060dup | |
| ENST00000646830.1:n.195+3728_195+3732dup | ||
| ENST00000646969.1:c.3031-87_3031-83dup | ENSP00000496724.1:n.3031-87_3031-83dup | |
| ENST00000646998.1:c.3264+3728_3264+3732dup | ENSP00000494662.1:n.3264+3728_3264+3732dup | |
| ENST00000647343.1:c.3181-87_3181-83dup | ENSP00000494879.1:n.3181-87_3181-83dup | |
| ENST00000651528.2:c.3265-87_3265-83dup MANE Select | ENSP00000498382.1:n.3265-87_3265-83dup | |
| ENST00000382111.6:c.3265-87_3265-83dup | ENSP00000371545.2:n.3265-87_3265-83dup | |
| ENST00000382112.7:c.3238-87_3238-83dup | ENSP00000371546.3:n.3238-87_3238-83dup | |
| ENST00000400246.5:c.3265-87_3265-83dup | ENSP00000383105.2:n.3265-87_3265-83dup | |
| ENST00000400248.6:c.3237+3728_3237+3732dup | ENSP00000383107.1:n.3237+3728_3237+3732dup | |
| ENST00000400249.6:c.3237+3728_3237+3732dup | ENSP00000383108.2:n.3237+3728_3237+3732dup | |
| ENST00000433147.1:c.1456+3728_1456+3732dup | ||
| ENST00000448753.5:c.1321-87_1321-83dup | ENSP00000402173.1:n.1321-87_1321-83dup | |
| ENST00000494060.1:n.138+3728_138+3732dup | ||
| ENST00000535622.5:c.3030+3728_3030+3732dup | ENSP00000440210.1:n.3030+3728_3030+3732dup | |
| NM_001136029.2:c.3238-87_3238-83dup | NP_001129501.1:n.3238-87_3238-83dup | |
| NM_001242896.1:c.3265-87_3265-83dup | NP_001229825.1:n.3265-87_3265-83dup | |
| NM_001242897.1:c.3030+3728_3030+3732dup | NP_001229826.1:n.3030+3728_3030+3732dup | |
| NM_014662.4:c.3237+3728_3237+3732dup | NP_055477.1:n.3237+3728_3237+3732dup | |
| NR_110988.1:n.3232+3728_3232+3732dup | ||
| XM_005261862.1:c.3265-87_3265-83dup | XP_005261919.1:n.3265-87_3265-83dup | |
| XM_011530557.1:c.3238-87_3238-83dup | XP_011528859.1:n.3238-87_3238-83dup | |
| XM_011530558.1:c.3264+3728_3264+3732dup | XP_011528860.1:n.3264+3728_3264+3732dup | |
| XM_011530559.1:c.3237+3728_3237+3732dup | XP_011528861.1:n.3237+3728_3237+3732dup | |
| XM_011530560.1:c.3031-87_3031-83dup | XP_011528862.1:n.3031-87_3031-83dup | |
| XM_011530561.1:c.3004-87_3004-83dup | XP_011528863.1:n.3004-87_3004-83dup | |
| XM_011530562.1:c.3265-87_3265-83dup | XP_011528864.1:n.3265-87_3265-83dup | |
| XM_011530563.1:c.3030+3728_3030+3732dup | XP_011528865.1:n.3030+3728_3030+3732dup | |
| XM_011530564.1:c.3265-87_3265-83dup | XP_011528866.1:n.3265-87_3265-83dup | |
| XM_011530565.1:c.3265-87_3265-83dup | XP_011528867.1:n.3265-87_3265-83dup | |
| XM_011530566.1:c.3265-87_3265-83dup | XP_011528868.1:n.3265-87_3265-83dup | |
| XM_011530567.1:c.3265-87_3265-83dup | XP_011528869.1:n.3265-87_3265-83dup | |
| XM_011530568.1:c.3264+3728_3264+3732dup | XP_011528870.1:n.3264+3728_3264+3732dup | |
| XM_011530569.1:c.1159-87_1159-83dup | XP_011528871.1:n.1159-87_1159-83dup | |
| XR_937972.1:n.3462-87_3462-83dup | ||
| XR_937973.1:n.3228-87_3228-83dup | ||
| NM_001136029.3:c.3238-87_3238-83dup | NP_001129501.1:n.3238-87_3238-83dup | |
| NM_001242896.2:c.3265-87_3265-83dup | NP_001229825.1:n.3265-87_3265-83dup | |
| NM_001363852.1:c.3264+3728_3264+3732dup | NP_001350781.1:n.3264+3728_3264+3732dup | |
| NM_001363854.1:c.3031-87_3031-83dup | NP_001350783.1:n.3031-87_3031-83dup | |
| NM_001364318.1:c.3265-87_3265-83dup | NP_001351247.1:n.3265-87_3265-83dup | |
| NM_001364319.1:c.3031-87_3031-83dup | NP_001351248.1:n.3031-87_3031-83dup | |
| NM_001364320.1:c.3264+3728_3264+3732dup | NP_001351249.1:n.3264+3728_3264+3732dup | |
| NM_014662.5:c.3237+3728_3237+3732dup | NP_055477.1:n.3237+3728_3237+3732dup | |
| NR_110988.2:n.3236+3728_3236+3732dup | ||
| NR_146296.1:n.3371-87_3371-83dup | ||
| NR_157125.1:n.3227+3728_3227+3732dup | ||
| NR_157126.1:n.3354-87_3354-83dup | ||
| NR_157128.1:n.3470+3728_3470+3732dup | ||
| XM_011530557.2:c.3238-87_3238-83dup | XP_011528859.1:n.3238-87_3238-83dup | |
| XM_011530559.2:c.3237+3728_3237+3732dup | XP_011528861.1:n.3237+3728_3237+3732dup | |
| XM_011530561.2:c.3004-87_3004-83dup | XP_011528863.1:n.3004-87_3004-83dup | |
| XM_011530562.2:c.3265-87_3265-83dup | XP_011528864.1:n.3265-87_3265-83dup | |
| XM_011530563.2:c.3030+3728_3030+3732dup | XP_011528865.1:n.3030+3728_3030+3732dup | |
| XM_011530565.2:c.3265-87_3265-83dup | XP_011528867.1:n.3265-87_3265-83dup | |
| XM_011530568.2:c.3264+3728_3264+3732dup | XP_011528870.1:n.3264+3728_3264+3732dup | |
| XM_011530569.2:c.1159-87_1159-83dup | XP_011528871.1:n.1159-87_1159-83dup | |
| XM_024452305.1:c.1132-87_1132-83dup | XP_024308073.1:n.1132-87_1132-83dup | |
| XR_001755389.1:n.3474-87_3474-83dup | ||
| XR_001755390.1:n.3474-87_3474-83dup | ||
| XR_937973.2:n.3240-87_3240-83dup | ||
| NM_001242896.3:c.3265-87_3265-83dup MANE Select | NP_001229825.1:n.3265-87_3265-83dup | |
| NM_001242897.2:c.3030+3728_3030+3732dup | NP_001229826.1:n.3030+3728_3030+3732dup | |
| NM_001363852.2:c.3264+3728_3264+3732dup | NP_001350781.1:n.3264+3728_3264+3732dup | |
| NM_001363854.2:c.3031-87_3031-83dup | NP_001350783.1:n.3031-87_3031-83dup | |
| NM_001369901.1:c.3181-87_3181-83dup | NP_001356830.1:n.3181-87_3181-83dup | |
| NM_001369902.1:c.3181-87_3181-83dup | NP_001356831.1:n.3181-87_3181-83dup | |
| NM_001369903.1:c.3237+3728_3237+3732dup | NP_001356832.1:n.3237+3728_3237+3732dup | |
| NR_146296.2:n.3354-87_3354-83dup | ||
| NM_001136029.4:c.3238-87_3238-83dup | NP_001129501.1:n.3238-87_3238-83dup | |
| NM_001364318.2:c.3265-87_3265-83dup | NP_001351247.1:n.3265-87_3265-83dup | |
| NM_001364319.2:c.3031-87_3031-83dup | NP_001351248.1:n.3031-87_3031-83dup | |
| NM_001364320.2:c.3264+3728_3264+3732dup | NP_001351249.1:n.3264+3728_3264+3732dup | |
| NM_014662.6:c.3237+3728_3237+3732dup | NP_055477.1:n.3237+3728_3237+3732dup | |
| NR_157125.2:n.3227+3728_3227+3732dup | ||
| NR_157126.2:n.3354-87_3354-83dup |