Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933181_87933182delinsCA , CM000672.2:g.87933181_87933182delinsCA	GRCh38
NC_000010.10:g.89692938_89692939delinsCA , CM000672.1:g.89692938_89692939delinsCA	GRCh37
NC_000010.9:g.89682918_89682919delinsCA	NCBI36
NG_007466.2:g.74743_74744delinsCA , LRG_311:g.74743_74744delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.422_423delinsCA	ENSP00000514759.2:p.His141Pro
ENST00000710265.1:c.422_423delinsCA	ENSP00000518161.1:p.His141Pro
ENST00000472832.3:c.422_423delinsCA	ENSP00000483066.2:p.His141Pro
ENST00000688158.2:n.1157_1158delinsCA
ENST00000688922.2:c.252_253delinsCA	ENSP00000508742.2:n.252_253delinsCA
ENST00000700021.1:c.377_378delinsCA	ENSP00000514757.1:p.His126Pro
ENST00000700022.1:c.422_423delinsCA	ENSP00000514758.1:p.His141Pro
ENST00000700029.1:c.256_257delinsCA
ENST00000706954.1:c.422_423delinsCA	ENSP00000516674.1:p.His141Pro
ENST00000706955.1:c.457_458delinsCA	ENSP00000516675.1:n.457_458delinsCA
ENST00000686459.1:c.422_423delinsCA	ENSP00000508909.1:p.His141Pro
ENST00000688158.1:c.533_534delinsCA	ENSP00000509254.1:n.533_534delinsCA
ENST00000688308.1:c.422_423delinsCA	ENSP00000508752.1:p.His141Pro
ENST00000688922.1:c.343_344delinsCA
ENST00000693560.1:c.941_942delinsCA	ENSP00000509861.1:p.His314Pro
ENST00000371953.8:c.422_423delinsCA MANE Select	ENSP00000361021.3:p.His141Pro
ENST00000371953.7:c.422_423delinsCA	ENSP00000361021.3:p.His141Pro
ENST00000498703.1:n.248_249delinsCA
ENST00000610634.1:c.320_321delinsCA	ENSP00000477517.1:p.His107Pro
NM_000314.5:c.422_423delinsCA	NP_000305.3:p.His141Pro
NM_000314.6:c.422_423delinsCA	NP_000305.3:p.His141Pro
NM_001304717.2:c.941_942delinsCA	NP_001291646.2:p.His314Pro
NM_001304718.1:c.-329_-328delinsCA	NP_001291647.1:n.-329_-328delinsCA
XM_006717926.2:c.377_378delinsCA	XP_006717989.1:p.His126Pro
XM_011539981.1:c.422_423delinsCA	XP_011538283.1:p.His141Pro
XM_011539982.1:c.326_327delinsCA	XP_011538284.1:p.His109Pro
XR_945789.1:n.1134_1135delinsCA
XR_945790.1:n.1134_1135delinsCA
XR_945791.1:n.1134_1135delinsCA
NM_000314.7:c.422_423delinsCA	NP_000305.3:p.His141Pro
NM_001304717.5:c.941_942delinsCA	NP_001291646.4:p.His314Pro
NM_001304718.2:c.-329_-328delinsCA	NP_001291647.1:n.-329_-328delinsCA
NM_000314.8:c.422_423delinsCA MANE Select	NP_000305.3:p.His141Pro