ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2570717dup , CM000673.2:g.2570717dup | GRCh38 |
| NC_000011.9:g.2591947dup , CM000673.1:g.2591947dup | GRCh37 |
| NC_000011.8:g.2548523dup | NCBI36 |
| NG_008935.1:g.130727dup , LRG_287:g.130727dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.306dup | ENSP00000434560.2:p.Arg103AlafsTer? | |
| ENST00000646564.2:c.478-12718dup | ENSP00000495806.2:n.478-12718dup | |
| ENST00000155840.12:c.567dup MANE Select | ENSP00000155840.2:p.Arg190AlafsTer? | |
| ENST00000335475.6:c.186dup | ENSP00000334497.5:p.Arg63AlafsTer? | |
| ENST00000646564.1:c.124-12718dup | ENSP00000495806.1:n.124-12718dup | |
| ENST00000155840.9:c.567dup | ENSP00000155840.2:p.Arg190AlafsTer? | |
| ENST00000335475.5:c.186dup | ENSP00000334497.5:p.Arg63AlafsTer? | |
| ENST00000496887.6:c.306dup | ENSP00000434560.1:p.Arg103AlafsTer? | |
| NM_000218.2:c.567dup , LRG_287t1:c.567dup | NP_000209.2:p.Arg190AlafsTer? | |
| NM_181798.1:c.186dup , LRG_287t2:c.186dup | NP_861463.1:p.Arg63AlafsTer? | |
| NM_000218.3:c.567dup MANE Select | NP_000209.2:p.Arg190AlafsTer? |