Linked Data
ClinVar Variation Id:
375539
ClinVar RCV Id:
RCV000416986
dbSNP Id:
rs1057519555
MyVariant Identifiers:
chr22:g.32232970_32232972delinsTCT (hg19)
chr22:g.31836984_31836986delinsTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.31836984_31836986delinsTCT , CM000684.2:g.31836984_31836986delinsTCT | GRCh38 |
| NC_000022.10:g.32232970_32232972delinsTCT , CM000684.1:g.32232970_32232972delinsTCT | GRCh37 |
| NC_000022.9:g.30562970_30562972delinsTCT | NCBI36 |
| NG_034067.1:g.88034_88036delinsTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382112.8:c.2183_2185delinsTCT | ENSP00000371546.4:p.Ser728_Ala729delinsPheSer | |
| ENST00000400246.7:c.1949_1951delinsTCT | ENSP00000383105.3:p.Ser650_Ala651delinsPheSer | |
| ENST00000400248.7:c.2171-15_2171-13delinsTCT | ENSP00000383107.1:n.2171-15_2171-13delinsTCT | |
| ENST00000400249.7:c.2183_2185delinsTCT | ENSP00000383108.3:p.Ser728_Ala729delinsPheSer | |
| ENST00000433147.2:c.2099_2101delinsTCT | ENSP00000410544.2:p.Ser700_Ala701delinsPheSer | |
| ENST00000448753.6:c.239_241delinsTCT | ENSP00000402173.1:p.Ser80_Ala81delinsPheSer | |
| ENST00000535622.6:c.1949_1951delinsTCT | ENSP00000440210.1:p.Ser650_Ala651delinsPheSer | |
| ENST00000642551.1:n.1919_1921delinsTCT | ||
| ENST00000642684.1:c.*1876_*1878delinsTCT | ENSP00000494554.1:n.*1876_*1878delinsTCT | |
| ENST00000642696.1:c.2171-15_2171-13delinsTCT | ENSP00000495917.1:n.2171-15_2171-13delinsTCT | |
| ENST00000642771.1:c.*194_*196delinsTCT | ENSP00000496278.1:n.*194_*196delinsTCT | |
| ENST00000642974.1:c.2183_2185delinsTCT | ENSP00000496395.1:p.Ser728_Ala729delinsPheSer | |
| ENST00000643395.1:c.1949_1951delinsTCT | ENSP00000496630.1:p.Ser650_Ala651delinsPheSer | |
| ENST00000643751.2:c.2183_2185delinsTCT | ENSP00000495496.1:p.Ser728_Ala729delinsPheSer | |
| ENST00000644162.1:c.*811_*813delinsTCT | ENSP00000495371.1:n.*811_*813delinsTCT | |
| ENST00000644331.1:c.2183_2185delinsTCT | ENSP00000494406.1:p.Ser728_Ala729delinsPheSer | |
| ENST00000645407.1:c.2207_2209delinsTCT | ENSP00000496252.1:p.Ser736_Ala737delinsPheSer | |
| ENST00000645494.1:c.*182-15_*182-13delinsTCT | ENSP00000495338.1:n.*182-15_*182-13delinsTCT | |
| ENST00000645560.1:c.1949_1951delinsTCT | ENSP00000495544.1:p.Ser650_Ala651delinsPheSer | |
| ENST00000645564.1:c.2105-15_2105-13delinsTCT | ENSP00000494484.1:n.2105-15_2105-13delinsTCT | |
| ENST00000645693.1:c.1949_1951delinsTCT | ENSP00000496281.1:p.Ser650_Ala651delinsPheSer | |
| ENST00000645711.1:c.2171-15_2171-13delinsTCT | ENSP00000493489.1:n.2171-15_2171-13delinsTCT | |
| ENST00000645755.1:c.*1165-110_*1165-108delinsTCT | ENSP00000495873.1:n.*1165-110_*1165-108delinsTCT | |
| ENST00000645893.1:n.1040_1042delinsTCT | ||
| ENST00000646465.1:c.1949_1951delinsTCT | ENSP00000495655.1:p.Ser650_Ala651delinsPheSer | |
| ENST00000646515.1:c.2183_2185delinsTCT | ENSP00000494700.1:p.Ser728_Ala729delinsPheSer | |
| ENST00000646701.1:c.1786+17759_1786+17761delinsTCT | ENSP00000496158.1:n.1786+17759_1786+17761delinsTCT | |
| ENST00000646969.1:c.1949_1951delinsTCT | ENSP00000496724.1:p.Ser650_Ala651delinsPheSer | |
| ENST00000646998.1:c.2183_2185delinsTCT | ENSP00000494662.1:p.Ser728_Ala729delinsPheSer | |
| ENST00000647343.1:c.2099_2101delinsTCT | ENSP00000494879.1:p.Ser700_Ala701delinsPheSer | |
| ENST00000651528.2:c.2183_2185delinsTCT MANE Select | ENSP00000498382.1:p.Ser728_Ala729delinsPheSer | |
| ENST00000382111.6:c.2183_2185delinsTCT | ENSP00000371545.2:p.Ser728_Ala729delinsPheSer | |
| ENST00000382112.7:c.2171-15_2171-13delinsTCT | ENSP00000371546.3:n.2171-15_2171-13delinsTCT | |
| ENST00000400246.5:c.2183_2185delinsTCT | ENSP00000383105.2:p.Ser728_Ala729delinsPheSer | |
| ENST00000400248.6:c.2171-15_2171-13delinsTCT | ENSP00000383107.1:n.2171-15_2171-13delinsTCT | |
| ENST00000400249.6:c.2171-15_2171-13delinsTCT | ENSP00000383108.2:n.2171-15_2171-13delinsTCT | |
| ENST00000433147.1:c.375_377delinsTCT | ||
| ENST00000448753.5:c.239_241delinsTCT | ENSP00000402173.1:p.Ser80_Ala81delinsPheSer | |
| ENST00000462414.1:n.133-110_133-108delinsTCT | ||
| ENST00000471914.5:n.116-15_116-13delinsTCT | ||
| ENST00000490731.1:n.137_139delinsTCT | ||
| ENST00000494065.2:n.76_78delinsTCT | ||
| ENST00000535622.5:c.1949_1951delinsTCT | ENSP00000440210.1:p.Ser650_Ala651delinsPheSer | |
| NM_001136029.2:c.2171-15_2171-13delinsTCT | NP_001129501.1:n.2171-15_2171-13delinsTCT | |
| NM_001242896.1:c.2183_2185delinsTCT | NP_001229825.1:p.Ser728_Ala729delinsPheSer | |
| NM_001242897.1:c.1949_1951delinsTCT | NP_001229826.1:p.Ser650_Ala651delinsPheSer | |
| NM_014662.4:c.2171-15_2171-13delinsTCT | NP_055477.1:n.2171-15_2171-13delinsTCT | |
| NR_110988.1:n.2151_2153delinsTCT | ||
| XM_005261862.1:c.2183_2185delinsTCT | XP_005261919.1:p.Ser728_Ala729delinsPheSer | |
| XM_011530557.1:c.2171-15_2171-13delinsTCT | XP_011528859.1:n.2171-15_2171-13delinsTCT | |
| XM_011530558.1:c.2183_2185delinsTCT | XP_011528860.1:p.Ser728_Ala729delinsPheSer | |
| XM_011530559.1:c.2171-15_2171-13delinsTCT | XP_011528861.1:n.2171-15_2171-13delinsTCT | |
| XM_011530560.1:c.1949_1951delinsTCT | XP_011528862.1:p.Ser650_Ala651delinsPheSer | |
| XM_011530561.1:c.1937-15_1937-13delinsTCT | XP_011528863.1:n.1937-15_1937-13delinsTCT | |
| XM_011530562.1:c.2183_2185delinsTCT | XP_011528864.1:p.Ser728_Ala729delinsPheSer | |
| XM_011530563.1:c.1949_1951delinsTCT | XP_011528865.1:p.Ser650_Ala651delinsPheSer | |
| XM_011530564.1:c.2183_2185delinsTCT | XP_011528866.1:p.Ser728_Ala729delinsPheSer | |
| XM_011530565.1:c.2183_2185delinsTCT | XP_011528867.1:p.Ser728_Ala729delinsPheSer | |
| XM_011530566.1:c.2183_2185delinsTCT | XP_011528868.1:p.Ser728_Ala729delinsPheSer | |
| XM_011530567.1:c.2183_2185delinsTCT | XP_011528869.1:p.Ser728_Ala729delinsPheSer | |
| XM_011530568.1:c.2183_2185delinsTCT | XP_011528870.1:p.Ser728_Ala729delinsPheSer | |
| XM_011530569.1:c.77_79delinsTCT | XP_011528871.1:p.Ser26_Ala27delinsPheSer | |
| XR_937972.1:n.2380_2382delinsTCT | ||
| XR_937973.1:n.2146_2148delinsTCT | ||
| NM_001136029.3:c.2171-15_2171-13delinsTCT | NP_001129501.1:n.2171-15_2171-13delinsTCT | |
| NM_001242896.2:c.2183_2185delinsTCT | NP_001229825.1:p.Ser728_Ala729delinsPheSer | |
| NM_001363852.1:c.2183_2185delinsTCT | NP_001350781.1:p.Ser728_Ala729delinsPheSer | |
| NM_001363854.1:c.1949_1951delinsTCT | NP_001350783.1:p.Ser650_Ala651delinsPheSer | |
| NM_001364318.1:c.2183_2185delinsTCT | NP_001351247.1:p.Ser728_Ala729delinsPheSer | |
| NM_001364319.1:c.1949_1951delinsTCT | NP_001351248.1:p.Ser650_Ala651delinsPheSer | |
| NM_001364320.1:c.2183_2185delinsTCT | NP_001351249.1:p.Ser728_Ala729delinsPheSer | |
| NM_014662.5:c.2171-15_2171-13delinsTCT | NP_055477.1:n.2171-15_2171-13delinsTCT | |
| NR_110988.2:n.2155_2157delinsTCT | ||
| NR_146296.1:n.2289_2291delinsTCT | ||
| NR_157125.1:n.2256-110_2256-108delinsTCT | ||
| NR_157126.1:n.2272_2274delinsTCT | ||
| NR_157128.1:n.2389_2391delinsTCT | ||
| XM_011530557.2:c.2171-15_2171-13delinsTCT | XP_011528859.1:n.2171-15_2171-13delinsTCT | |
| XM_011530559.2:c.2171-15_2171-13delinsTCT | XP_011528861.1:n.2171-15_2171-13delinsTCT | |
| XM_011530561.2:c.1937-15_1937-13delinsTCT | XP_011528863.1:n.1937-15_1937-13delinsTCT | |
| XM_011530562.2:c.2183_2185delinsTCT | XP_011528864.1:p.Ser728_Ala729delinsPheSer | |
| XM_011530563.2:c.1949_1951delinsTCT | XP_011528865.1:p.Ser650_Ala651delinsPheSer | |
| XM_011530565.2:c.2183_2185delinsTCT | XP_011528867.1:p.Ser728_Ala729delinsPheSer | |
| XM_011530568.2:c.2183_2185delinsTCT | XP_011528870.1:p.Ser728_Ala729delinsPheSer | |
| XM_011530569.2:c.77_79delinsTCT | XP_011528871.1:p.Ser26_Ala27delinsPheSer | |
| XM_017029113.1:c.2171-110_2171-108delinsTCT | XP_016884602.1:n.2171-110_2171-108delinsTCT | |
| XM_017029115.1:c.1937-110_1937-108delinsTCT | XP_016884604.1:n.1937-110_1937-108delinsTCT | |
| XM_024452305.1:c.65-15_65-13delinsTCT | XP_024308073.1:n.65-15_65-13delinsTCT | |
| XR_001755389.1:n.2392_2394delinsTCT | ||
| XR_001755390.1:n.2392_2394delinsTCT | ||
| XR_937973.2:n.2158_2160delinsTCT | ||
| NM_001242896.3:c.2183_2185delinsTCT MANE Select | NP_001229825.1:p.Ser728_Ala729delinsPheSer | |
| NM_001242897.2:c.1949_1951delinsTCT | NP_001229826.1:p.Ser650_Ala651delinsPheSer | |
| NM_001363852.2:c.2183_2185delinsTCT | NP_001350781.1:p.Ser728_Ala729delinsPheSer | |
| NM_001363854.2:c.1949_1951delinsTCT | NP_001350783.1:p.Ser650_Ala651delinsPheSer | |
| NM_001369901.1:c.2099_2101delinsTCT | NP_001356830.1:p.Ser700_Ala701delinsPheSer | |
| NM_001369902.1:c.2099_2101delinsTCT | NP_001356831.1:p.Ser700_Ala701delinsPheSer | |
| NM_001369903.1:c.2171-15_2171-13delinsTCT | NP_001356832.1:n.2171-15_2171-13delinsTCT | |
| NR_146296.2:n.2272_2274delinsTCT | ||
| NM_001136029.4:c.2171-15_2171-13delinsTCT | NP_001129501.1:n.2171-15_2171-13delinsTCT | |
| NM_001364318.2:c.2183_2185delinsTCT | NP_001351247.1:p.Ser728_Ala729delinsPheSer | |
| NM_001364319.2:c.1949_1951delinsTCT | NP_001351248.1:p.Ser650_Ala651delinsPheSer | |
| NM_001364320.2:c.2183_2185delinsTCT | NP_001351249.1:p.Ser728_Ala729delinsPheSer | |
| NM_014662.6:c.2171-15_2171-13delinsTCT | NP_055477.1:n.2171-15_2171-13delinsTCT | |
| NR_157125.2:n.2256-110_2256-108delinsTCT | ||
| NR_157126.2:n.2272_2274delinsTCT |