Canonical Allele Identifier: CA2566696625

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.117450144_117450145insTAGAGCGGATAGCTCAGGAGCGAGGCCATGAAATTGTCCTAAAAGTAGATGCCCCAGGTGATTATGATCTTTCTGTGGCAGAGGTAGCTATTGAGTTCAGT , CM000668.2:g.117450144_117450145insTAGAGCGGATAGCTCAGGAGCGAGGCCATGAAATTGTCCTAAAAGTAGATGCCCCAGGTGATTATGATCTTTCTGTGGCAGAGGTAGCTATTGAGTTCAGT	GRCh38
NC_000006.11:g.117771307_117771308insTAGAGCGGATAGCTCAGGAGCGAGGCCATGAAATTGTCCTAAAAGTAGATGCCCCAGGTGATTATGATCTTTCTGTGGCAGAGGTAGCTATTGAGTTCAGT , CM000668.1:g.117771307_117771308insTAGAGCGGATAGCTCAGGAGCGAGGCCATGAAATTGTCCTAAAAGTAGATGCCCCAGGTGATTATGATCTTTCTGTGGCAGAGGTAGCTATTGAGTTCAGT	GRCh37
NC_000006.10:g.117878000_117878001insTAGAGCGGATAGCTCAGGAGCGAGGCCATGAAATTGTCCTAAAAGTAGATGCCCCAGGTGATTATGATCTTTCTGTGGCAGAGGTAGCTATTGAGTTCAGT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000467125.1:c.547+116709_547+116710insACTGAACTCAATAGCTACCTCTGCCACAGAAAGATCATAATCACCTGGGGCATCTACTTTTAGGACAATTTCATGGCCTCGCTCCTGAGCTATCCGCTCTA	ENSP00000487717.1:n.547+116709_547+116710...