Linked Data
ClinVar Variation Id:
214919
ClinVar RCV Id:
RCV000198499
dbSNP Id:
rs863224143
MyVariant Identifiers:
chr3:g.193380755_193380756delinsGTAAC (hg19)
chr3:g.193662966_193662967delinsGTAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193662966_193662967delinsGTAAC , CM000665.2:g.193662966_193662967delinsGTAAC | GRCh38 |
| NC_000003.11:g.193380755_193380756delinsGTAAC , CM000665.1:g.193380755_193380756delinsGTAAC | GRCh37 |
| NC_000003.10:g.194863449_194863450delinsGTAAC | NCBI36 |
| NG_011605.1:g.74823_74824delinsGTAAC , LRG_337:g.74823_74824delinsGTAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.2661+4_2661+5delinsGTAAC MANE Select | ENSP00000355324.2:n.2661+4_2661+5delinsGTAAC | |
| ENST00000361828.7:c.2496+4_2496+5delinsGTAAC | ENSP00000354429.3:n.2496+4_2496+5delinsGTAAC | |
| ENST00000361908.8:c.2607+4_2607+5delinsGTAAC | ENSP00000354681.3:n.2607+4_2607+5delinsGTAAC | |
| ENST00000392436.7:c.2496+4_2496+5delinsGTAAC | ENSP00000376231.3:n.2496+4_2496+5delinsGTAAC | |
| ENST00000392437.6:c.2550+4_2550+5delinsGTAAC | ENSP00000376232.2:n.2550+4_2550+5delinsGTAAC | |
| ENST00000642289.1:c.2435+4_2435+5delinsGTAAC | ||
| ENST00000642445.1:c.2496+4_2496+5delinsGTAAC | ENSP00000495535.1:n.2496+4_2496+5delinsGTAAC | |
| ENST00000642593.1:c.*721+4_*721+5delinsGTAAC | ENSP00000494273.1:n.*721+4_*721+5delinsGTAAC | |
| ENST00000643329.1:c.2178+4_2178+5delinsGTAAC | ENSP00000493673.1:n.2178+4_2178+5delinsGTAAC | |
| ENST00000643737.1:c.*2577+4_*2577+5delinsGTAAC | ENSP00000494210.1:n.*2577+4_*2577+5delinsGTAAC | |
| ENST00000644595.1:c.2496+4_2496+5delinsGTAAC | ENSP00000494121.1:n.2496+4_2496+5delinsGTAAC | |
| ENST00000644629.1:c.2083+4_2083+5delinsGTAAC | ||
| ENST00000644841.1:c.*980+4_*980+5delinsGTAAC | ENSP00000493988.1:n.*980+4_*980+5delinsGTAAC | |
| ENST00000644959.1:c.2490+4_2490+5delinsGTAAC | ||
| ENST00000645553.1:c.2511+4_2511+5delinsGTAAC | ENSP00000494725.1:n.2511+4_2511+5delinsGTAAC | |
| ENST00000646085.1:c.*1974+4_*1974+5delinsGTAAC | ENSP00000494509.1:n.*1974+4_*1974+5delinsGTAAC | |
| ENST00000646277.1:c.*1097+4_*1097+5delinsGTAAC | ENSP00000495289.1:n.*1097+4_*1097+5delinsGTAAC | |
| ENST00000646544.1:c.1484+4_1484+5delinsGTAAC | ||
| ENST00000646699.1:c.2435+4_2435+5delinsGTAAC | ||
| ENST00000646793.1:c.2388+4_2388+5delinsGTAAC | ENSP00000494512.1:n.2388+4_2388+5delinsGTAAC | |
| ENST00000361150.6:c.2499+4_2499+5delinsGTAAC | ENSP00000354781.2:n.2499+4_2499+5delinsGTAAC | |
| ENST00000361510.6:c.2661+4_2661+5delinsGTAAC | ENSP00000355324.2:n.2661+4_2661+5delinsGTAAC | |
| ENST00000361715.6:c.2553+4_2553+5delinsGTAAC | ENSP00000355311.2:n.2553+4_2553+5delinsGTAAC | |
| ENST00000361828.6:c.2550+4_2550+5delinsGTAAC | ENSP00000354429.2:n.2550+4_2550+5delinsGTAAC | |
| ENST00000361908.7:c.2607+4_2607+5delinsGTAAC | ENSP00000354681.3:n.2607+4_2607+5delinsGTAAC | |
| ENST00000392438.7:c.2496+4_2496+5delinsGTAAC | ENSP00000376233.3:n.2496+4_2496+5delinsGTAAC | |
| ENST00000445863.1:c.72+4_72+5delinsGTAAC | ENSP00000398358.1:n.72+4_72+5delinsGTAAC | |
| NM_015560.2:c.2496+4_2496+5delinsGTAAC , LRG_337t1:c.2496+4_2496+5delinsGTAAC | NP_056375.2:n.2496+4_2496+5delinsGTAAC | |
| NM_130831.2:c.2388+4_2388+5delinsGTAAC | NP_570844.1:n.2388+4_2388+5delinsGTAAC | |
| NM_130832.2:c.2442+4_2442+5delinsGTAAC | NP_570845.1:n.2442+4_2442+5delinsGTAAC | |
| NM_130833.2:c.2499+4_2499+5delinsGTAAC | NP_570846.1:n.2499+4_2499+5delinsGTAAC | |
| NM_130834.2:c.2550+4_2550+5delinsGTAAC | NP_570847.2:n.2550+4_2550+5delinsGTAAC | |
| NM_130835.2:c.2553+4_2553+5delinsGTAAC | NP_570848.1:n.2553+4_2553+5delinsGTAAC | |
| NM_130836.2:c.2607+4_2607+5delinsGTAAC | NP_570849.2:n.2607+4_2607+5delinsGTAAC | |
| NM_130837.2:c.2661+4_2661+5delinsGTAAC , LRG_337t2:c.2661+4_2661+5delinsGTAAC | NP_570850.2:n.2661+4_2661+5delinsGTAAC | |
| XM_011512863.1:c.2661+4_2661+5delinsGTAAC | XP_011511165.1:n.2661+4_2661+5delinsGTAAC | |
| XM_011512864.1:c.2607+4_2607+5delinsGTAAC | XP_011511166.1:n.2607+4_2607+5delinsGTAAC | |
| XM_011512865.1:c.2550+4_2550+5delinsGTAAC | XP_011511167.1:n.2550+4_2550+5delinsGTAAC | |
| XM_011512866.1:c.2499+4_2499+5delinsGTAAC | XP_011511168.1:n.2499+4_2499+5delinsGTAAC | |
| XM_011512867.1:c.2496+4_2496+5delinsGTAAC | XP_011511169.1:n.2496+4_2496+5delinsGTAAC | |
| XM_011512868.1:c.2388+4_2388+5delinsGTAAC | XP_011511170.1:n.2388+4_2388+5delinsGTAAC | |
| XR_924835.1:n.582+5953_582+5954delinsGTTAC | ||
| NM_001354663.1:c.2127+4_2127+5delinsGTAAC | NP_001341592.1:n.2127+4_2127+5delinsGTAAC | |
| NM_001354664.1:c.2124+4_2124+5delinsGTAAC | NP_001341593.1:n.2124+4_2124+5delinsGTAAC | |
| XR_001740158.2:n.2915+4_2915+5delinsGTAAC | ||
| XR_001740159.2:n.2750+4_2750+5delinsGTAAC | ||
| XR_001741072.1:n.601-2882_601-2881delinsGTTAC | ||
| XR_001741074.1:n.475+7841_475+7842delinsGTTAC | ||
| XR_924835.2:n.600+5953_600+5954delinsGTTAC | ||
| NM_001354663.2:c.2127+4_2127+5delinsGTAAC | NP_001341592.1:n.2127+4_2127+5delinsGTAAC | |
| NM_001354664.2:c.2124+4_2124+5delinsGTAAC | NP_001341593.1:n.2124+4_2124+5delinsGTAAC | |
| NM_130831.3:c.2388+4_2388+5delinsGTAAC | NP_570844.1:n.2388+4_2388+5delinsGTAAC | |
| NM_130832.3:c.2442+4_2442+5delinsGTAAC | NP_570845.1:n.2442+4_2442+5delinsGTAAC | |
| NM_130834.3:c.2550+4_2550+5delinsGTAAC | NP_570847.2:n.2550+4_2550+5delinsGTAAC | |
| NM_130836.3:c.2607+4_2607+5delinsGTAAC | NP_570849.2:n.2607+4_2607+5delinsGTAAC | |
| NM_015560.3:c.2496+4_2496+5delinsGTAAC | NP_056375.2:n.2496+4_2496+5delinsGTAAC | |
| NM_130833.3:c.2499+4_2499+5delinsGTAAC | NP_570846.1:n.2499+4_2499+5delinsGTAAC | |
| NM_130835.3:c.2553+4_2553+5delinsGTAAC | NP_570848.1:n.2553+4_2553+5delinsGTAAC | |
| NM_130837.3:c.2661+4_2661+5delinsGTAAC MANE Select | NP_570850.2:n.2661+4_2661+5delinsGTAAC |