Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34859548_34859549insCTTCTCA , CM000683.2:g.34859548_34859549insCTTCTCA	GRCh38
NC_000021.8:g.36231845_36231846insCTTCTCA , CM000683.1:g.36231845_36231846insCTTCTCA	GRCh37
NC_000021.7:g.35153715_35153716insCTTCTCA	NCBI36
NG_011402.2:g.1130164_1130165insGAGAAGT , LRG_482:g.1130164_1130165insGAGAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675419.1:c.539_540insGAGAAGT MANE Select	ENSP00000501943.1:p.Phe180LeufsTer?
ENST00000300305.7:c.539_540insGAGAAGT	ENSP00000300305.3:p.Phe180LeufsTer?
ENST00000344691.8:c.458_459insGAGAAGT	ENSP00000340690.4:p.Phe153LeufsTer?
ENST00000358356.9:c.458_459insGAGAAGT	ENSP00000351123.5:p.Phe153LeufsTer?
ENST00000399237.6:c.503_504insGAGAAGT	ENSP00000382182.2:p.Phe168LeufsTer?
ENST00000399240.5:c.458_459insGAGAAGT	ENSP00000382184.1:p.Phe153LeufsTer?
ENST00000437180.5:c.539_540insGAGAAGT	ENSP00000409227.1:p.Phe180LeufsTer?
ENST00000467577.1:n.31_32insGAGAAGT
ENST00000482318.5:c.129_130insGAGAAGT	ENSP00000477067.1:n.129_130insGAGAAGT
NM_001001890.2:c.458_459insGAGAAGT	NP_001001890.1:p.Phe153LeufsTer?
NM_001122607.1:c.458_459insGAGAAGT	NP_001116079.1:p.Phe153LeufsTer?
NM_001754.4:c.539_540insGAGAAGT , LRG_482t1:c.539_540insGAGAAGT	NP_001745.2:p.Phe180LeufsTer?
XM_005261068.3:c.503_504insGAGAAGT	XP_005261125.1:p.Phe168LeufsTer?
XM_005261069.3:c.539_540insGAGAAGT	XP_005261126.1:p.Phe180LeufsTer?
XM_011529766.1:c.539_540insGAGAAGT	XP_011528068.1:p.Phe180LeufsTer?
XM_011529767.1:c.500_501insGAGAAGT	XP_011528069.1:p.Phe167LeufsTer?
XM_011529768.1:c.500_501insGAGAAGT	XP_011528070.1:p.Phe167LeufsTer?
XM_011529770.1:c.539_540insGAGAAGT	XP_011528072.1:p.Phe180LeufsTer?
XR_937576.1:n.718_719insGAGAAGT
XM_005261069.4:c.539_540insGAGAAGT	XP_005261126.1:p.Phe180LeufsTer?
XM_011529766.2:c.539_540insGAGAAGT	XP_011528068.1:p.Phe180LeufsTer?
XM_011529767.2:c.500_501insGAGAAGT	XP_011528069.1:p.Phe167LeufsTer?
XM_011529768.2:c.500_501insGAGAAGT	XP_011528070.1:p.Phe167LeufsTer?
XM_011529770.2:c.539_540insGAGAAGT	XP_011528072.1:p.Phe180LeufsTer?
XM_017028487.1:c.386_387insGAGAAGT	XP_016883976.1:p.Phe129LeufsTer?
XR_937576.2:n.765_766insGAGAAGT
NM_001001890.3:c.458_459insGAGAAGT	NP_001001890.1:p.Phe153LeufsTer?
NM_001122607.2:c.458_459insGAGAAGT	NP_001116079.1:p.Phe153LeufsTer?
NM_001754.5:c.539_540insGAGAAGT MANE Select	NP_001745.2:p.Phe180LeufsTer?