Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753482_1753484delinsGGC , CM000673.2:g.1753482_1753484delinsGGC	GRCh38
NC_000011.9:g.1774712_1774714delinsGGC , CM000673.1:g.1774712_1774714delinsGGC	GRCh37
NC_000011.8:g.1731288_1731290delinsGGC	NCBI36
NG_008655.1:g.15509_15511delinsGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.19_21delinsGCC MANE Select	ENSP00000236671.2:n.19_21delinsGCC
ENST00000367196.4:c.19_21delinsGCC	ENSP00000356164.4:n.19_21delinsGCC
ENST00000427721.3:c.634+49_634+51delinsGCC
ENST00000429746.2:c.19_21delinsGCC	ENSP00000402586.2:n.19_21delinsGCC
ENST00000433655.6:c.424_426delinsGCC	ENSP00000404902.1:n.424_426delinsGCC
ENST00000438213.6:c.19_21delinsGCC	ENSP00000415036.2:n.19_21delinsGCC
ENST00000636397.1:c.1071+319_1071+321delinsGCC	ENSP00000489910.1:n.1071+319_1071+321delinsGCC
ENST00000636571.1:c.19_21delinsGCC	ENSP00000490770.1:n.19_21delinsGCC
ENST00000636579.1:c.72+319_72+321delinsGCC	ENSP00000490489.1:n.72+319_72+321delinsGCC
ENST00000636615.1:c.1071+319_1071+321delinsGCC	ENSP00000490014.1:n.1071+319_1071+321delinsGCC
ENST00000636843.1:c.19_21delinsGCC	ENSP00000490897.1:n.19_21delinsGCC
ENST00000637158.1:n.856_858delinsGCC
ENST00000637381.2:n.3686_3688delinsGCC
ENST00000637387.1:c.19_21delinsGCC	ENSP00000490598.1:n.19_21delinsGCC
ENST00000637815.2:c.19_21delinsGCC	ENSP00000490344.1:n.19_21delinsGCC
ENST00000637915.1:c.19_21delinsGCC	ENSP00000490471.1:n.19_21delinsGCC
ENST00000637937.1:n.566_568delinsGCC
ENST00000678991.1:c.1119_1121delinsGCC	ENSP00000503019.1:n.1119_1121delinsGCC
ENST00000236671.6:c.19_21delinsGCC	ENSP00000236671.2:n.19_21delinsGCC
ENST00000427721.2:c.471+319_471+321delinsGCC	ENSP00000415840.2:n.471+319_471+321delinsGCC
ENST00000429746.1:c.589_591delinsGCC	ENSP00000402586.1:n.589_591delinsGCC
ENST00000433655.5:c.424_426delinsGCC	ENSP00000404902.1:n.424_426delinsGCC
NM_001909.4:c.19_21delinsGCC	NP_001900.1:n.19_21delinsGCC
NM_001909.5:c.19_21delinsGCC MANE Select	NP_001900.1:n.19_21delinsGCC

HGVS	Amino-acid Change
ENST00000236671.7:c.19_21delinsGCC MANE Select	ENSP00000236671.2:n.19_21delinsGCC
ENST00000367196.4:c.19_21delinsGCC	ENSP00000356164.4:n.19_21delinsGCC
ENST00000427721.3:c.634+49_634+51delinsGCC
ENST00000429746.2:c.19_21delinsGCC	ENSP00000402586.2:n.19_21delinsGCC
ENST00000433655.6:c.424_426delinsGCC	ENSP00000404902.1:n.424_426delinsGCC
ENST00000438213.6:c.19_21delinsGCC	ENSP00000415036.2:n.19_21delinsGCC
ENST00000636397.1:c.1071+319_1071+321delinsGCC	ENSP00000489910.1:n.1071+319_1071+321delinsGCC
ENST00000636571.1:c.19_21delinsGCC	ENSP00000490770.1:n.19_21delinsGCC
ENST00000636579.1:c.72+319_72+321delinsGCC	ENSP00000490489.1:n.72+319_72+321delinsGCC
ENST00000636615.1:c.1071+319_1071+321delinsGCC	ENSP00000490014.1:n.1071+319_1071+321delinsGCC
ENST00000636843.1:c.19_21delinsGCC	ENSP00000490897.1:n.19_21delinsGCC
ENST00000637158.1:n.856_858delinsGCC
ENST00000637381.2:n.3686_3688delinsGCC
ENST00000637387.1:c.19_21delinsGCC	ENSP00000490598.1:n.19_21delinsGCC
ENST00000637815.2:c.19_21delinsGCC	ENSP00000490344.1:n.19_21delinsGCC
ENST00000637915.1:c.19_21delinsGCC	ENSP00000490471.1:n.19_21delinsGCC
ENST00000637937.1:n.566_568delinsGCC
ENST00000678991.1:c.1119_1121delinsGCC	ENSP00000503019.1:n.1119_1121delinsGCC
ENST00000236671.6:c.19_21delinsGCC	ENSP00000236671.2:n.19_21delinsGCC
ENST00000427721.2:c.471+319_471+321delinsGCC	ENSP00000415840.2:n.471+319_471+321delinsGCC
ENST00000429746.1:c.589_591delinsGCC	ENSP00000402586.1:n.589_591delinsGCC
ENST00000433655.5:c.424_426delinsGCC	ENSP00000404902.1:n.424_426delinsGCC
NM_001909.4:c.19_21delinsGCC	NP_001900.1:n.19_21delinsGCC
NM_001909.5:c.19_21delinsGCC MANE Select	NP_001900.1:n.19_21delinsGCC