Linked Data
dbSNP Id:
rs1399055793
MyVariant Identifiers:
chr3:g.193360565_193360566insCTTC (hg19)
chr3:g.193642776_193642777insCTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193642776_193642777insCTTC , CM000665.2:g.193642776_193642777insCTTC | GRCh38 |
| NC_000003.11:g.193360565_193360566insCTTC , CM000665.1:g.193360565_193360566insCTTC | GRCh37 |
| NC_000003.10:g.194843259_194843260insCTTC | NCBI36 |
| NG_011605.1:g.54633_54634insCTTC , LRG_337:g.54633_54634insCTTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1161_1162insCTTC MANE Select | ENSP00000355324.2:p.Glu388LeufsTer11 | |
| ENST00000361828.7:c.996_997insCTTC | ENSP00000354429.3:p.Glu333LeufsTer11 | |
| ENST00000361908.8:c.1107_1108insCTTC | ENSP00000354681.3:p.Glu370LeufsTer11 | |
| ENST00000392436.7:c.996_997insCTTC | ENSP00000376231.3:p.Glu333LeufsTer11 | |
| ENST00000392437.6:c.1050_1051insCTTC | ENSP00000376232.2:p.Glu351LeufsTer11 | |
| ENST00000642289.1:c.1080-597_1080-596insCTTC | ||
| ENST00000642445.1:c.996_997insCTTC | ENSP00000495535.1:p.Glu333LeufsTer11 | |
| ENST00000642593.1:c.996_997insCTTC | ENSP00000494273.1:p.Glu333LeufsTer11 | |
| ENST00000643329.1:c.678_679insCTTC | ENSP00000493673.1:p.Glu227LeufsTer11 | |
| ENST00000643737.1:c.*1077_*1078insCTTC | ENSP00000494210.1:n.*1077_*1078insCTTC | |
| ENST00000644595.1:c.996_997insCTTC | ENSP00000494121.1:p.Glu333LeufsTer11 | |
| ENST00000644629.1:c.656_657insCTTC | ||
| ENST00000644841.1:c.624_625insCTTC | ENSP00000493988.1:p.Glu209LeufsTer11 | |
| ENST00000644959.1:c.965_966insCTTC | ||
| ENST00000645553.1:c.1011_1012insCTTC | ENSP00000494725.1:p.Glu338LeufsTer11 | |
| ENST00000646085.1:c.*474_*475insCTTC | ENSP00000494509.1:n.*474_*475insCTTC | |
| ENST00000646277.1:c.1161_1162insCTTC | ENSP00000495289.1:p.Glu388LeufsTer11 | |
| ENST00000646544.1:c.59_60insCTTC | ||
| ENST00000646699.1:c.1080-597_1080-596insCTTC | ||
| ENST00000646793.1:c.888_889insCTTC | ENSP00000494512.1:p.Glu297LeufsTer11 | |
| ENST00000361150.6:c.999_1000insCTTC | ENSP00000354781.2:p.Glu334LeufsTer11 | |
| ENST00000361510.6:c.1161_1162insCTTC | ENSP00000355324.2:p.Glu388LeufsTer11 | |
| ENST00000361715.6:c.1053_1054insCTTC | ENSP00000355311.2:p.Glu352LeufsTer11 | |
| ENST00000361828.6:c.1050_1051insCTTC | ENSP00000354429.2:p.Glu351LeufsTer11 | |
| ENST00000361908.7:c.1107_1108insCTTC | ENSP00000354681.3:p.Glu370LeufsTer11 | |
| ENST00000392438.7:c.996_997insCTTC | ENSP00000376233.3:p.Glu333LeufsTer11 | |
| ENST00000475899.1:n.192_193insCTTC | ||
| ENST00000497189.5:n.482_483insCTTC | ||
| NM_015560.2:c.996_997insCTTC , LRG_337t1:c.996_997insCTTC | NP_056375.2:p.Glu333LeufsTer11 | |
| NM_130831.2:c.888_889insCTTC | NP_570844.1:p.Glu297LeufsTer11 | |
| NM_130832.2:c.942_943insCTTC | NP_570845.1:p.Glu315LeufsTer11 | |
| NM_130833.2:c.999_1000insCTTC | NP_570846.1:p.Glu334LeufsTer11 | |
| NM_130834.2:c.1050_1051insCTTC | NP_570847.2:p.Glu351LeufsTer11 | |
| NM_130835.2:c.1053_1054insCTTC | NP_570848.1:p.Glu352LeufsTer11 | |
| NM_130836.2:c.1107_1108insCTTC | NP_570849.2:p.Glu370LeufsTer11 | |
| NM_130837.2:c.1161_1162insCTTC , LRG_337t2:c.1161_1162insCTTC | NP_570850.2:p.Glu388LeufsTer11 | |
| XM_011512863.1:c.1161_1162insCTTC | XP_011511165.1:p.Glu388LeufsTer11 | |
| XM_011512864.1:c.1107_1108insCTTC | XP_011511166.1:p.Glu370LeufsTer11 | |
| XM_011512865.1:c.1050_1051insCTTC | XP_011511167.1:p.Glu351LeufsTer11 | |
| XM_011512866.1:c.999_1000insCTTC | XP_011511168.1:p.Glu334LeufsTer11 | |
| XM_011512867.1:c.996_997insCTTC | XP_011511169.1:p.Glu333LeufsTer11 | |
| XM_011512868.1:c.888_889insCTTC | XP_011511170.1:p.Glu297LeufsTer11 | |
| XM_011512869.1:c.1161_1162insCTTC | XP_011511171.1:p.Glu388LeufsTer11 | |
| NM_001354663.1:c.627_628insCTTC | NP_001341592.1:p.Glu210LeufsTer11 | |
| NM_001354664.1:c.624_625insCTTC | NP_001341593.1:p.Glu209LeufsTer11 | |
| XR_001740158.2:n.1390_1391insCTTC | ||
| XR_001740159.2:n.1225_1226insCTTC | ||
| NM_001354663.2:c.627_628insCTTC | NP_001341592.1:p.Glu210LeufsTer11 | |
| NM_001354664.2:c.624_625insCTTC | NP_001341593.1:p.Glu209LeufsTer11 | |
| NM_130831.3:c.888_889insCTTC | NP_570844.1:p.Glu297LeufsTer11 | |
| NM_130832.3:c.942_943insCTTC | NP_570845.1:p.Glu315LeufsTer11 | |
| NM_130834.3:c.1050_1051insCTTC | NP_570847.2:p.Glu351LeufsTer11 | |
| NM_130836.3:c.1107_1108insCTTC | NP_570849.2:p.Glu370LeufsTer11 | |
| NM_015560.3:c.996_997insCTTC | NP_056375.2:p.Glu333LeufsTer11 | |
| NM_130833.3:c.999_1000insCTTC | NP_570846.1:p.Glu334LeufsTer11 | |
| NM_130835.3:c.1053_1054insCTTC | NP_570848.1:p.Glu352LeufsTer11 | |
| NM_130837.3:c.1161_1162insCTTC MANE Select | NP_570850.2:p.Glu388LeufsTer11 |