Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.150941722_150941723insTCGGCATGGTAGTCATCTGGGAAGAGGGGGCGCAGGGCACGGTCTACGAGACGGCAAGTAA , CM000665.2:g.150941722_150941723insTCGGCATGGTAGTCATCTGGGAAGAGGGGGCGCAGGGCACGGTCTACGAGACGGCAAGTAA	GRCh38
NC_000003.11:g.150659509_150659510insTCGGCATGGTAGTCATCTGGGAAGAGGGGGCGCAGGGCACGGTCTACGAGACGGCAAGTAA , CM000665.1:g.150659509_150659510insTCGGCATGGTAGTCATCTGGGAAGAGGGGGCGCAGGGCACGGTCTACGAGACGGCAAGTAA	GRCh37
NC_000003.10:g.152142199_152142200insTCGGCATGGTAGTCATCTGGGAAGAGGGGGCGCAGGGCACGGTCTACGAGACGGCAAGTAA	NCBI36
NG_009168.1:g.36277_36278insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA , LRG_700:g.36277_36278insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327047.6:c.292_293insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA MANE Select	ENSP00000322280.1:p.His98LeufsTer?
ENST00000468836.2:c.440_441insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA	ENSP00000419892.2:p.Arg148TyrfsTer16
ENST00000644099.1:c.284_285insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA	ENSP00000494762.1:n.284_285insTTACTTGCCGTCTCGTAGACCGTGCCCTGCG...
ENST00000295911.6:c.64_65insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA	ENSP00000295911.2:p.His22LeufsTer?
ENST00000327047.5:c.292_293insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA	ENSP00000322280.1:p.His98LeufsTer?
ENST00000328863.8:c.292_293insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA	ENSP00000329158.4:p.His98LeufsTer?
ENST00000468836.1:c.64_65insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA	ENSP00000419892.1:p.His22LeufsTer?
ENST00000472224.1:n.298_299insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA
ENST00000485607.1:c.-45_-44insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA	ENSP00000419244.1:n.-45_-44insTTACTTGCCGTCTCGTAGACCGTGCCCTGCG...
ENST00000565169.1:c.21_22insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA
ENST00000569170.5:c.21_22insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA
NM_001195794.1:c.292_293insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA , LRG_700t1:c.292_293insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA	NP_001182723.1:p.His98LeufsTer?
NM_001256819.1:c.464_465insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA	NP_001243748.1:p.Arg156TyrfsTer16
NM_052995.2:c.64_65insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA , LRG_700t2:c.64_65insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA	NP_443721.1:p.His22LeufsTer?
NM_174878.2:c.292_293insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA	NP_777367.1:p.His98LeufsTer?
NR_046380.2:n.734_735insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA
XR_924167.1:n.604_605insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA
NM_001256819.2:c.464_465insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA	NP_001243748.1:p.Arg156TyrfsTer16
NM_174878.3:c.292_293insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA MANE Select	NP_777367.1:p.His98LeufsTer?
NR_046380.3:n.462_463insTTACTTGCCGTCTCGTAGACCGTGCCCTGCGCCCCCTCTTCCCAGATGACTACCATGCCGA