ClinVar Allele:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2585211_2585296dup , CM000673.2:g.2585211_2585296dup | GRCh38 |
| NC_000011.9:g.2606441_2606526dup , CM000673.1:g.2606441_2606526dup | GRCh37 |
| NC_000011.8:g.2563017_2563102dup | NCBI36 |
| NG_008935.1:g.145221_145306dup , LRG_287:g.145221_145306dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.771+1666_771+1751dup | ENSP00000434560.2:n.771+1666_771+1751dup | |
| ENST00000646564.2:c.588+1666_588+1751dup | ENSP00000495806.2:n.588+1666_588+1751dup | |
| ENST00000155840.12:c.1033-1_1117dup | ||
| ENST00000335475.6:c.652-1_736dup | ||
| ENST00000646564.1:c.234+1666_234+1751dup | ENSP00000495806.1:n.234+1666_234+1751dup | |
| ENST00000155840.9:c.1033-1_1117dup | ||
| ENST00000335475.5:c.652-1_736dup | ||
| NM_000218.2:c.1033-1_1117dup , LRG_287t1:c.1033-1_1117dup | ||
| NM_181798.1:c.652-1_736dup , LRG_287t2:c.652-1_736dup | ||
| NM_000218.3:c.1033-1_1117dup |