Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38502488_38502544delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA , CM000681.2:g.38502488_38502544delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA	GRCh38
NC_000019.9:g.38993128_38993184delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA , CM000681.1:g.38993128_38993184delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA	GRCh37
NC_000019.8:g.43684968_43685024delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA	NCBI36
NG_008866.1:g.73789_73845delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA , LRG_766:g.73789_73845delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
ENST00000359596.8:c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
ENST00000355481.8:c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
ENST00000359596.7:c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
ENST00000360985.7:c.7612-19_7649delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
ENST00000594335.5:c.1067-19_1104delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
NM_000540.2:c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA , LRG_766t1:c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
NM_001042723.1:c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
XM_006723317.1:c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
XM_006723319.1:c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
XM_011527204.1:c.7612-19_7649delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
XM_011527205.1:c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
XM_006723317.2:c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
XM_006723319.2:c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
XM_011527205.2:c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
XR_001753735.1:n.7698-19_7735delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
NM_000540.3:c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA
NM_001042723.2:c.7615-19_7652delinsTCCTCACCCTGCGCCCTAGGCCACTTTCAGCACCACCGAGATGGCGCTGGCGCTGAA