Canonical Allele Identifier: CA2255111944

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237265_30237440delinsAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGTTGCAGGGGGGATGCTGGG , CM000679.2:g.30237265_30237440delinsAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGTTGCAGGGGGGATGCTGGG	GRCh38
NC_000017.10:g.28564283_28564458delinsAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGTTGCAGGGGGGATGCTGGG , CM000679.1:g.28564283_28564458delinsAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGTTGCAGGGGGGATGCTGGG	GRCh37
NC_000017.9:g.25588409_25588584delinsAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGTTGCAGGGGGGATGCTGGG	NCBI36
NG_011747.2:g.3497_3672delinsCCCAGCATCCCCCCTGCAACCTCCCAGCAACTCCCTGTACCCCTCCTAGGATCGCTCCTGCATCCCCCATTATCCCCCCCTTCACCCCTCGCGGCATCCCCCCTGCACCCCCAGCATCCCCCCTGCAGCCCCCCCAGCATCTCCCCTGCACCCCCAGCATCCCCCCTGCAGCCCTT

Transcript Alleles

HGVS	Amino-acid change
XR_934654.1:n.165+195_166-202delinsAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGTTGCAGGGGGGATGCTGGG
XR_001752824.1:n.280+195_281-202delinsAAGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGAGATGCTGGGGGGGCTGCAGGGGGGATGCTGGGGGTGCAGGGGGGATGCCGCGAGGGGTGAAGGGGGGGATAATGGGGGATGCAGGAGCGATCCTAGGAGGGGTACAGGGAGTTGCTGGGAGGTTGCAGGGGGGATGCTGGG