Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87925529_87925531delinsAGA , CM000672.2:g.87925529_87925531delinsAGA	GRCh38
NC_000010.10:g.89685286_89685288delinsAGA , CM000672.1:g.89685286_89685288delinsAGA	GRCh37
NC_000010.9:g.89675266_89675268delinsAGA	NCBI36
NG_007466.2:g.67091_67093delinsAGA , LRG_311:g.67091_67093delinsAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.181_183delinsAGA	ENSP00000514759.2:p.His61Arg
ENST00000710265.1:c.181_183delinsAGA	ENSP00000518161.1:p.His61Arg
ENST00000472832.3:c.181_183delinsAGA	ENSP00000483066.2:p.His61Arg
ENST00000688158.2:n.916_918delinsAGA
ENST00000688922.2:c.181_183delinsAGA	ENSP00000508742.2:p.His61Arg
ENST00000700021.1:c.165-5517_165-5515delinsAGA	ENSP00000514757.1:n.165-5517_165-5515delinsAGA
ENST00000700022.1:c.181_183delinsAGA	ENSP00000514758.1:p.His61Arg
ENST00000700029.1:c.15_17delinsAGA
ENST00000706954.1:c.181_183delinsAGA	ENSP00000516674.1:p.His61Arg
ENST00000706955.1:c.216_218delinsAGA	ENSP00000516675.1:n.216_218delinsAGA
ENST00000686459.1:c.181_183delinsAGA	ENSP00000508909.1:p.His61Arg
ENST00000688158.1:c.292_294delinsAGA	ENSP00000509254.1:n.292_294delinsAGA
ENST00000688308.1:c.181_183delinsAGA	ENSP00000508752.1:p.His61Arg
ENST00000688922.1:c.50_52delinsAGA
ENST00000693560.1:c.700_702delinsAGA	ENSP00000509861.1:p.His234Arg
ENST00000371953.8:c.181_183delinsAGA MANE Select	ENSP00000361021.3:p.His61Arg
ENST00000371953.7:c.181_183delinsAGA	ENSP00000361021.3:p.His61Arg
ENST00000498703.1:n.7_9delinsAGA
ENST00000610634.1:c.79_81delinsAGA	ENSP00000477517.1:p.His27Arg
NM_000314.5:c.181_183delinsAGA	NP_000305.3:p.His61Arg
NM_000314.6:c.181_183delinsAGA	NP_000305.3:p.His61Arg
NM_001304717.2:c.700_702delinsAGA	NP_001291646.2:p.His234Arg
NM_001304718.1:c.-541-5517_-541-5515delinsAGA	NP_001291647.1:n.-541-5517_-541-5515delinsAGA
XM_006717926.2:c.165-5517_165-5515delinsAGA	XP_006717989.1:n.165-5517_165-5515delinsAGA
XM_011539981.1:c.181_183delinsAGA	XP_011538283.1:p.His61Arg
XM_011539982.1:c.85_87delinsAGA	XP_011538284.1:p.His29Arg
XR_945789.1:n.893_895delinsAGA
XR_945790.1:n.893_895delinsAGA
XR_945791.1:n.893_895delinsAGA
NM_000314.7:c.181_183delinsAGA	NP_000305.3:p.His61Arg
NM_001304717.5:c.700_702delinsAGA	NP_001291646.4:p.His234Arg
NM_001304718.2:c.-541-5517_-541-5515delinsAGA	NP_001291647.1:n.-541-5517_-541-5515delinsAGA
NM_000314.8:c.181_183delinsAGA MANE Select	NP_000305.3:p.His61Arg