Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753441_1753442delinsCA , CM000673.2:g.1753441_1753442delinsCA	GRCh38
NC_000011.9:g.1774671_1774672delinsCA , CM000673.1:g.1774671_1774672delinsCA	GRCh37
NC_000011.8:g.1731247_1731248delinsCA	NCBI36
NG_008655.1:g.15551_15552delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.61_62delinsTG MANE Select	ENSP00000236671.2:n.61_62delinsTG
ENST00000367196.4:c.61_62delinsTG	ENSP00000356164.4:n.61_62delinsTG
ENST00000427721.3:c.634+91_634+92delinsTG
ENST00000429746.2:c.61_62delinsTG	ENSP00000402586.2:n.61_62delinsTG
ENST00000433655.6:c.466_467delinsTG	ENSP00000404902.1:n.466_467delinsTG
ENST00000438213.6:c.61_62delinsTG	ENSP00000415036.2:n.61_62delinsTG
ENST00000636397.1:c.1071+361_1071+362delinsTG	ENSP00000489910.1:n.1071+361_1071+362delinsTG
ENST00000636571.1:c.61_62delinsTG	ENSP00000490770.1:n.61_62delinsTG
ENST00000636579.1:c.72+361_72+362delinsTG	ENSP00000490489.1:n.72+361_72+362delinsTG
ENST00000636615.1:c.1071+361_1071+362delinsTG	ENSP00000490014.1:n.1071+361_1071+362delinsTG
ENST00000636843.1:c.61_62delinsTG	ENSP00000490897.1:n.61_62delinsTG
ENST00000637158.1:n.898_899delinsTG
ENST00000637381.2:n.3728_3729delinsTG
ENST00000637387.1:c.61_62delinsTG	ENSP00000490598.1:n.61_62delinsTG
ENST00000637815.2:c.61_62delinsTG	ENSP00000490344.1:n.61_62delinsTG
ENST00000637915.1:c.61_62delinsTG	ENSP00000490471.1:n.61_62delinsTG
ENST00000637937.1:n.608_609delinsTG
ENST00000678991.1:c.1161_1162delinsTG	ENSP00000503019.1:n.1161_1162delinsTG
ENST00000236671.6:c.61_62delinsTG	ENSP00000236671.2:n.61_62delinsTG
ENST00000427721.2:c.471+361_471+362delinsTG	ENSP00000415840.2:n.471+361_471+362delinsTG
ENST00000429746.1:c.631_632delinsTG	ENSP00000402586.1:n.631_632delinsTG
ENST00000433655.5:c.466_467delinsTG	ENSP00000404902.1:n.466_467delinsTG
NM_001909.4:c.61_62delinsTG	NP_001900.1:n.61_62delinsTG
NM_001909.5:c.61_62delinsTG MANE Select	NP_001900.1:n.61_62delinsTG

HGVS	Amino-acid Change
ENST00000236671.7:c.61_62delinsTG MANE Select	ENSP00000236671.2:n.61_62delinsTG
ENST00000367196.4:c.61_62delinsTG	ENSP00000356164.4:n.61_62delinsTG
ENST00000427721.3:c.634+91_634+92delinsTG
ENST00000429746.2:c.61_62delinsTG	ENSP00000402586.2:n.61_62delinsTG
ENST00000433655.6:c.466_467delinsTG	ENSP00000404902.1:n.466_467delinsTG
ENST00000438213.6:c.61_62delinsTG	ENSP00000415036.2:n.61_62delinsTG
ENST00000636397.1:c.1071+361_1071+362delinsTG	ENSP00000489910.1:n.1071+361_1071+362delinsTG
ENST00000636571.1:c.61_62delinsTG	ENSP00000490770.1:n.61_62delinsTG
ENST00000636579.1:c.72+361_72+362delinsTG	ENSP00000490489.1:n.72+361_72+362delinsTG
ENST00000636615.1:c.1071+361_1071+362delinsTG	ENSP00000490014.1:n.1071+361_1071+362delinsTG
ENST00000636843.1:c.61_62delinsTG	ENSP00000490897.1:n.61_62delinsTG
ENST00000637158.1:n.898_899delinsTG
ENST00000637381.2:n.3728_3729delinsTG
ENST00000637387.1:c.61_62delinsTG	ENSP00000490598.1:n.61_62delinsTG
ENST00000637815.2:c.61_62delinsTG	ENSP00000490344.1:n.61_62delinsTG
ENST00000637915.1:c.61_62delinsTG	ENSP00000490471.1:n.61_62delinsTG
ENST00000637937.1:n.608_609delinsTG
ENST00000678991.1:c.1161_1162delinsTG	ENSP00000503019.1:n.1161_1162delinsTG
ENST00000236671.6:c.61_62delinsTG	ENSP00000236671.2:n.61_62delinsTG
ENST00000427721.2:c.471+361_471+362delinsTG	ENSP00000415840.2:n.471+361_471+362delinsTG
ENST00000429746.1:c.631_632delinsTG	ENSP00000402586.1:n.631_632delinsTG
ENST00000433655.5:c.466_467delinsTG	ENSP00000404902.1:n.466_467delinsTG
NM_001909.4:c.61_62delinsTG	NP_001900.1:n.61_62delinsTG
NM_001909.5:c.61_62delinsTG MANE Select	NP_001900.1:n.61_62delinsTG