Linked Data
ClinVar Variation Id:
217841
ClinVar RCV Id:
RCV000201881
dbSNP Id:
rs863225275
MyVariant Identifiers:
chr3:g.193360765_193360766dupTT (hg19)
chr3:g.193642976_193642977dupTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193642976_193642977dup , CM000665.2:g.193642976_193642977dup | GRCh38 |
| NC_000003.11:g.193360765_193360766dup , CM000665.1:g.193360765_193360766dup | GRCh37 |
| NC_000003.10:g.194843459_194843460dup | NCBI36 |
| NG_011605.1:g.54833_54834dup , LRG_337:g.54833_54834dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361510.8:c.1232_1233dup MANE Select | ENSP00000355324.2:p.Ala412LeufsTer4 | |
| ENST00000361828.7:c.1067_1068dup | ENSP00000354429.3:p.Ala357LeufsTer4 | |
| ENST00000361908.8:c.1178_1179dup | ENSP00000354681.3:p.Ala394LeufsTer4 | |
| ENST00000392436.7:c.1067_1068dup | ENSP00000376231.3:p.Ala357LeufsTer4 | |
| ENST00000392437.6:c.1121_1122dup | ENSP00000376232.2:p.Ala375LeufsTer4 | |
| ENST00000642289.1:c.1080-397_1080-396dup | ||
| ENST00000642445.1:c.1067_1068dup | ENSP00000495535.1:p.Ala357LeufsTer4 | |
| ENST00000642593.1:c.1067_1068dup | ENSP00000494273.1:p.Ala357LeufsTer4 | |
| ENST00000643329.1:c.749_750dup | ENSP00000493673.1:p.Ala251LeufsTer4 | |
| ENST00000643737.1:c.*1148_*1149dup | ENSP00000494210.1:n.*1148_*1149dup | |
| ENST00000644595.1:c.1067_1068dup | ENSP00000494121.1:p.Ala357LeufsTer4 | |
| ENST00000644629.1:c.727_728dup | ||
| ENST00000644841.1:c.695_696dup | ENSP00000493988.1:p.Ala233LeufsTer4 | |
| ENST00000644959.1:c.1036_1037dup | ||
| ENST00000645553.1:c.1082_1083dup | ENSP00000494725.1:p.Ala362LeufsTer4 | |
| ENST00000646085.1:c.*545_*546dup | ENSP00000494509.1:n.*545_*546dup | |
| ENST00000646277.1:c.1232_1233dup | ENSP00000495289.1:p.Ala412LeufsTer4 | |
| ENST00000646544.1:c.128+131_128+132dup | ||
| ENST00000646699.1:c.1080-397_1080-396dup | ||
| ENST00000646793.1:c.959_960dup | ENSP00000494512.1:p.Ala321LeufsTer4 | |
| ENST00000361150.6:c.1070_1071dup | ENSP00000354781.2:p.Ala358LeufsTer4 | |
| ENST00000361510.6:c.1232_1233dup | ENSP00000355324.2:p.Ala412LeufsTer4 | |
| ENST00000361715.6:c.1124_1125dup | ENSP00000355311.2:p.Ala376LeufsTer4 | |
| ENST00000361828.6:c.1121_1122dup | ENSP00000354429.2:p.Ala375LeufsTer4 | |
| ENST00000361908.7:c.1178_1179dup | ENSP00000354681.3:p.Ala394LeufsTer4 | |
| ENST00000392438.7:c.1067_1068dup | ENSP00000376233.3:p.Ala357LeufsTer4 | |
| ENST00000475899.1:n.263_264dup | ||
| ENST00000497189.5:n.553_554dup | ||
| NM_015560.2:c.1067_1068dup , LRG_337t1:c.1067_1068dup | NP_056375.2:p.Ala357LeufsTer4 | |
| NM_130831.2:c.959_960dup | NP_570844.1:p.Ala321LeufsTer4 | |
| NM_130832.2:c.1013_1014dup | NP_570845.1:p.Ala339LeufsTer4 | |
| NM_130833.2:c.1070_1071dup | NP_570846.1:p.Ala358LeufsTer4 | |
| NM_130834.2:c.1121_1122dup | NP_570847.2:p.Ala375LeufsTer4 | |
| NM_130835.2:c.1124_1125dup | NP_570848.1:p.Ala376LeufsTer4 | |
| NM_130836.2:c.1178_1179dup | NP_570849.2:p.Ala394LeufsTer4 | |
| NM_130837.2:c.1232_1233dup , LRG_337t2:c.1232_1233dup | NP_570850.2:p.Ala412LeufsTer4 | |
| XM_011512863.1:c.1232_1233dup | XP_011511165.1:p.Ala412LeufsTer4 | |
| XM_011512864.1:c.1178_1179dup | XP_011511166.1:p.Ala394LeufsTer4 | |
| XM_011512865.1:c.1121_1122dup | XP_011511167.1:p.Ala375LeufsTer4 | |
| XM_011512866.1:c.1070_1071dup | XP_011511168.1:p.Ala358LeufsTer4 | |
| XM_011512867.1:c.1067_1068dup | XP_011511169.1:p.Ala357LeufsTer4 | |
| XM_011512868.1:c.959_960dup | XP_011511170.1:p.Ala321LeufsTer4 | |
| XM_011512869.1:c.1232_1233dup | XP_011511171.1:p.Ala412LeufsTer4 | |
| NM_001354663.1:c.698_699dup | NP_001341592.1:p.Ala234LeufsTer4 | |
| NM_001354664.1:c.695_696dup | NP_001341593.1:p.Ala233LeufsTer4 | |
| XR_001740158.2:n.1461_1462dup | ||
| XR_001740159.2:n.1296_1297dup | ||
| NM_001354663.2:c.698_699dup | NP_001341592.1:p.Ala234LeufsTer4 | |
| NM_001354664.2:c.695_696dup | NP_001341593.1:p.Ala233LeufsTer4 | |
| NM_130831.3:c.959_960dup | NP_570844.1:p.Ala321LeufsTer4 | |
| NM_130832.3:c.1013_1014dup | NP_570845.1:p.Ala339LeufsTer4 | |
| NM_130834.3:c.1121_1122dup | NP_570847.2:p.Ala375LeufsTer4 | |
| NM_130836.3:c.1178_1179dup | NP_570849.2:p.Ala394LeufsTer4 | |
| NM_015560.3:c.1067_1068dup | NP_056375.2:p.Ala357LeufsTer4 | |
| NM_130833.3:c.1070_1071dup | NP_570846.1:p.Ala358LeufsTer4 | |
| NM_130835.3:c.1124_1125dup | NP_570848.1:p.Ala376LeufsTer4 | |
| NM_130837.3:c.1232_1233dup MANE Select | NP_570850.2:p.Ala412LeufsTer4 |