MyVariant.info:
gnomAD v2:
gnomAD v3:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193631622_193631623del , CM000665.2:g.193631622_193631623del | GRCh38 |
| NC_000003.11:g.193349411_193349412del , CM000665.1:g.193349411_193349412del | GRCh37 |
| NC_000003.10:g.194832105_194832106del | NCBI36 |
| NG_011605.1:g.43479_43480del , LRG_337:g.43479_43480del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.800_801del MANE Select | ENSP00000355324.2:p.Lys267ArgfsTer4 | |
| ENST00000361828.7:c.635_636del | ENSP00000354429.3:p.Lys212ArgfsTer4 | |
| ENST00000361908.8:c.746_747del | ENSP00000354681.3:p.Lys249ArgfsTer4 | |
| ENST00000392436.7:c.635_636del | ENSP00000376231.3:p.Lys212ArgfsTer4 | |
| ENST00000392437.6:c.689_690del | ENSP00000376232.2:p.Lys230ArgfsTer4 | |
| ENST00000434811.2:c.586_587del | ||
| ENST00000642289.1:c.730_731del | ||
| ENST00000642445.1:c.635_636del | ENSP00000495535.1:p.Lys212ArgfsTer4 | |
| ENST00000642593.1:c.635_636del | ENSP00000494273.1:p.Lys212ArgfsTer4 | |
| ENST00000643329.1:c.317_318del | ENSP00000493673.1:p.Lys106ArgfsTer4 | |
| ENST00000643737.1:c.*716_*717del | ENSP00000494210.1:n.*716_*717del | |
| ENST00000644595.1:c.635_636del | ENSP00000494121.1:p.Lys212ArgfsTer4 | |
| ENST00000644629.1:c.295_296del | ||
| ENST00000644841.1:c.263_264del | ENSP00000493988.1:p.Lys88ArgfsTer4 | |
| ENST00000644959.1:c.604_605del | ||
| ENST00000645553.1:c.635_636del | ENSP00000494725.1:p.Lys212ArgfsTer4 | |
| ENST00000646085.1:c.*113_*114del | ENSP00000494509.1:n.*113_*114del | |
| ENST00000646277.1:c.800_801del | ENSP00000495289.1:p.Lys267ArgfsTer4 | |
| ENST00000646699.1:c.730_731del | ||
| ENST00000646793.1:c.527_528del | ENSP00000494512.1:p.Lys176ArgfsTer4 | |
| ENST00000361150.6:c.638_639del | ENSP00000354781.2:p.Lys213ArgfsTer4 | |
| ENST00000361510.6:c.800_801del | ENSP00000355324.2:p.Lys267ArgfsTer4 | |
| ENST00000361715.6:c.692_693del | ENSP00000355311.2:p.Lys231ArgfsTer4 | |
| ENST00000361828.6:c.689_690del | ENSP00000354429.2:p.Lys230ArgfsTer4 | |
| ENST00000361908.7:c.746_747del | ENSP00000354681.3:p.Lys249ArgfsTer4 | |
| ENST00000392438.7:c.635_636del | ENSP00000376233.3:p.Lys212ArgfsTer4 | |
| ENST00000434811.1:c.388_389del | ||
| ENST00000495476.1:n.156_157del | ||
| ENST00000497189.5:n.121_122del | ||
| NM_015560.2:c.635_636del , LRG_337t1:c.635_636del | NP_056375.2:p.Lys212ArgfsTer4 | |
| NM_130831.2:c.527_528del | NP_570844.1:p.Lys176ArgfsTer4 | |
| NM_130832.2:c.581_582del | NP_570845.1:p.Lys194ArgfsTer4 | |
| NM_130833.2:c.638_639del | NP_570846.1:p.Lys213ArgfsTer4 | |
| NM_130834.2:c.689_690del | NP_570847.2:p.Lys230ArgfsTer4 | |
| NM_130835.2:c.692_693del | NP_570848.1:p.Lys231ArgfsTer4 | |
| NM_130836.2:c.746_747del | NP_570849.2:p.Lys249ArgfsTer4 | |
| NM_130837.2:c.800_801del , LRG_337t2:c.800_801del | NP_570850.2:p.Lys267ArgfsTer4 | |
| XM_011512863.1:c.800_801del | XP_011511165.1:p.Lys267ArgfsTer4 | |
| XM_011512864.1:c.746_747del | XP_011511166.1:p.Lys249ArgfsTer4 | |
| XM_011512865.1:c.689_690del | XP_011511167.1:p.Lys230ArgfsTer4 | |
| XM_011512866.1:c.638_639del | XP_011511168.1:p.Lys213ArgfsTer4 | |
| XM_011512867.1:c.635_636del | XP_011511169.1:p.Lys212ArgfsTer4 | |
| XM_011512868.1:c.527_528del | XP_011511170.1:p.Lys176ArgfsTer4 | |
| XM_011512869.1:c.800_801del | XP_011511171.1:p.Lys267ArgfsTer4 | |
| NM_001354663.1:c.266_267del | NP_001341592.1:p.Lys89ArgfsTer4 | |
| NM_001354664.1:c.263_264del | NP_001341593.1:p.Lys88ArgfsTer4 | |
| XR_001740158.2:n.1029_1030del | ||
| XR_001740159.2:n.864_865del | ||
| NM_001354663.2:c.266_267del | NP_001341592.1:p.Lys89ArgfsTer4 | |
| NM_001354664.2:c.263_264del | NP_001341593.1:p.Lys88ArgfsTer4 | |
| NM_130831.3:c.527_528del | NP_570844.1:p.Lys176ArgfsTer4 | |
| NM_130832.3:c.581_582del | NP_570845.1:p.Lys194ArgfsTer4 | |
| NM_130834.3:c.689_690del | NP_570847.2:p.Lys230ArgfsTer4 | |
| NM_130836.3:c.746_747del | NP_570849.2:p.Lys249ArgfsTer4 | |
| NM_015560.3:c.635_636del | NP_056375.2:p.Lys212ArgfsTer4 | |
| NM_130833.3:c.638_639del | NP_570846.1:p.Lys213ArgfsTer4 | |
| NM_130835.3:c.692_693del | NP_570848.1:p.Lys231ArgfsTer4 | |
| NM_130837.3:c.800_801del MANE Select | NP_570850.2:p.Lys267ArgfsTer4 |