Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933126_87933128delinsAGA , CM000672.2:g.87933126_87933128delinsAGA	GRCh38
NC_000010.10:g.89692883_89692885delinsAGA , CM000672.1:g.89692883_89692885delinsAGA	GRCh37
NC_000010.9:g.89682863_89682865delinsAGA	NCBI36
NG_007466.2:g.74688_74690delinsAGA , LRG_311:g.74688_74690delinsAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.367_369delinsAGA	ENSP00000514759.2:p.His123Arg
ENST00000710265.1:c.367_369delinsAGA	ENSP00000518161.1:p.His123Arg
ENST00000472832.3:c.367_369delinsAGA	ENSP00000483066.2:p.His123Arg
ENST00000688158.2:n.1102_1104delinsAGA
ENST00000688922.2:c.197_199delinsAGA	ENSP00000508742.2:n.197_199delinsAGA
ENST00000700021.1:c.322_324delinsAGA	ENSP00000514757.1:p.His108Arg
ENST00000700022.1:c.367_369delinsAGA	ENSP00000514758.1:p.His123Arg
ENST00000700029.1:c.201_203delinsAGA
ENST00000706954.1:c.367_369delinsAGA	ENSP00000516674.1:p.His123Arg
ENST00000706955.1:c.402_404delinsAGA	ENSP00000516675.1:n.402_404delinsAGA
ENST00000686459.1:c.367_369delinsAGA	ENSP00000508909.1:p.His123Arg
ENST00000688158.1:c.478_480delinsAGA	ENSP00000509254.1:n.478_480delinsAGA
ENST00000688308.1:c.367_369delinsAGA	ENSP00000508752.1:p.His123Arg
ENST00000688922.1:c.288_290delinsAGA
ENST00000693560.1:c.886_888delinsAGA	ENSP00000509861.1:p.His296Arg
ENST00000371953.8:c.367_369delinsAGA MANE Select	ENSP00000361021.3:p.His123Arg
ENST00000371953.7:c.367_369delinsAGA	ENSP00000361021.3:p.His123Arg
ENST00000498703.1:n.193_195delinsAGA
ENST00000610634.1:c.265_267delinsAGA	ENSP00000477517.1:p.His89Arg
NM_000314.5:c.367_369delinsAGA	NP_000305.3:p.His123Arg
NM_000314.6:c.367_369delinsAGA	NP_000305.3:p.His123Arg
NM_001304717.2:c.886_888delinsAGA	NP_001291646.2:p.His296Arg
NM_001304718.1:c.-384_-382delinsAGA	NP_001291647.1:n.-384_-382delinsAGA
XM_006717926.2:c.322_324delinsAGA	XP_006717989.1:p.His108Arg
XM_011539981.1:c.367_369delinsAGA	XP_011538283.1:p.His123Arg
XM_011539982.1:c.271_273delinsAGA	XP_011538284.1:p.His91Arg
XR_945789.1:n.1079_1081delinsAGA
XR_945790.1:n.1079_1081delinsAGA
XR_945791.1:n.1079_1081delinsAGA
NM_000314.7:c.367_369delinsAGA	NP_000305.3:p.His123Arg
NM_001304717.5:c.886_888delinsAGA	NP_001291646.4:p.His296Arg
NM_001304718.2:c.-384_-382delinsAGA	NP_001291647.1:n.-384_-382delinsAGA
NM_000314.8:c.367_369delinsAGA MANE Select	NP_000305.3:p.His123Arg