Allele Registry

HGVS	Genome Assembly
NC_000014.9:g.23422325_23422326insATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTC , CM000676.2:g.23422325_23422326insATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTC	GRCh38
NC_000014.8:g.23891534_23891535insATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTC , CM000676.1:g.23891534_23891535insATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTC	GRCh37
NC_000014.7:g.22961374_22961375insATCATCCACTTGCTGCTCCAGCTTGACTTTGGCCTTAGTCAGGGTGTTGACCTTGTCCTCCTCGGCCTGAAGGTCATCCAGAGCCTGTTGGTGGGCCTCTTGCAGAGCTTTCTTCTC	NCBI36
NG_007884.1:g.18336_18337insGAGAAGAAAGCTCTGCAAGAGGCCCACCAACAGGCTCTGGATGACCTTCAGGCCGAGGAGGACAAGGTCAACACCCTGACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGAT , LRG_384:g.18336_18337insGAGAAGAAAGCTCTGCAAGAGGCCCACCAACAGGCTCTGGATGACCTTCAGGCCGAGGAGGACAAGGTCAACACCCTGACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGAT

HGVS	Amino-acid Change
ENST00000355349.4:c.3100-1_3100insGAGAAGAAAGCTCTGCAAGAGGCCCACCAACAGGCTCTGGATGACCTTCAGGCCGAGGAGGACAAGGTCAACACCCTGACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGAT MANE Select	ENSP00000347507.3:n.3100-1_3100insGAGAAGAAAGCTCTGCAAGAGGCCCAC...
ENST00000355349.3:c.3100-1_3100insGAGAAGAAAGCTCTGCAAGAGGCCCACCAACAGGCTCTGGATGACCTTCAGGCCGAGGAGGACAAGGTCAACACCCTGACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGAT	ENSP00000347507.3:n.3100-1_3100insGAGAAGAAAGCTCTGCAAGAGGCCCAC...
NM_000257.3:c.3100-1_3100insGAGAAGAAAGCTCTGCAAGAGGCCCACCAACAGGCTCTGGATGACCTTCAGGCCGAGGAGGACAAGGTCAACACCCTGACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGAT	NP_000248.2:n.3100-1_3100insGAGAAGAAAGCTCTGCAAGAGGCCCACCAACAG...
XR_245686.3:n.3206-1_3206insGAGAAGAAAGCTCTGCAAGAGGCCCACCAACAGGCTCTGGATGACCTTCAGGCCGAGGAGGACAAGGTCAACACCCTGACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGAT
XM_017021340.1:c.3100-1_3100insGAGAAGAAAGCTCTGCAAGAGGCCCACCAACAGGCTCTGGATGACCTTCAGGCCGAGGAGGACAAGGTCAACACCCTGACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGAT	XP_016876829.1:n.3100-1_3100insGAGAAGAAAGCTCTGCAAGAGGCCCACCAA...
NM_000257.4:c.3100-1_3100insGAGAAGAAAGCTCTGCAAGAGGCCCACCAACAGGCTCTGGATGACCTTCAGGCCGAGGAGGACAAGGTCAACACCCTGACTAAGGCCAAAGTCAAGCTGGAGCAGCAAGTGGATGAT MANE Select	NP_000248.2:n.3100-1_3100insGAGAAGAAAGCTCTGCAAGAGGCCCACCAACAG...