Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110965079_110965080insCTT , CM000672.2:g.110965079_110965080insCTT	GRCh38
NC_000010.10:g.112724837_112724838insCTT , CM000672.1:g.112724837_112724838insCTT	GRCh37
NC_000010.9:g.112714827_112714828insCTT	NCBI36
NG_028922.1:g.50537_50538insCTT , LRG_753:g.50537_50538insCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.703+18_703+19insCTT	ENSP00000265277.5:n.703+18_703+19insCTT
ENST00000451838.2:c.-242-35336_-242-35335insCTT	ENSP00000408275.2:n.-242-35336_-242-35335insCTT
ENST00000480155.2:n.939+18_939+19insCTT
ENST00000685059.1:c.703+18_703+19insCTT	ENSP00000510210.1:n.703+18_703+19insCTT
ENST00000685613.1:c.703+18_703+19insCTT	ENSP00000510564.1:n.703+18_703+19insCTT
ENST00000687592.1:n.1002+18_1002+19insCTT
ENST00000688928.1:c.703+18_703+19insCTT	ENSP00000509273.1:n.703+18_703+19insCTT
ENST00000689118.1:c.703+18_703+19insCTT	ENSP00000510554.1:n.703+18_703+19insCTT
ENST00000689300.1:c.703+18_703+19insCTT	ENSP00000510639.1:n.703+18_703+19insCTT
ENST00000689997.1:c.-380-20549_-380-20548insCTT	ENSP00000510700.1:n.-380-20549_-380-20548insCTT
ENST00000691151.1:n.1013_1014insCTT
ENST00000691369.1:c.703+18_703+19insCTT	ENSP00000509754.1:n.703+18_703+19insCTT
ENST00000691441.1:c.703+18_703+19insCTT	ENSP00000509686.1:n.703+18_703+19insCTT
ENST00000691903.1:c.703+18_703+19insCTT	ENSP00000510314.1:n.703+18_703+19insCTT
ENST00000692776.1:c.703+18_703+19insCTT	ENSP00000508524.1:n.703+18_703+19insCTT
ENST00000369452.9:c.703+18_703+19insCTT MANE Select	ENSP00000358464.5:n.703+18_703+19insCTT
ENST00000265277.9:c.703+18_703+19insCTT	ENSP00000265277.5:n.703+18_703+19insCTT
ENST00000369452.8:c.703+18_703+19insCTT	ENSP00000358464.4:n.703+18_703+19insCTT
ENST00000451838.1:c.211+18_211+19insCTT	ENSP00000408275.1:n.211+18_211+19insCTT
ENST00000489390.1:n.56-35336_56-35335insCTT
ENST00000497305.1:n.30+18_30+19insCTT
NM_001269039.1:c.703+18_703+19insCTT	NP_001255968.1:n.703+18_703+19insCTT
NM_007373.3:c.703+18_703+19insCTT , LRG_753t1:c.703+18_703+19insCTT	NP_031399.2:n.703+18_703+19insCTT
XM_011540216.1:c.-380-20549_-380-20548insCTT	XP_011538518.1:n.-380-20549_-380-20548insCTT
NM_001269039.2:c.703+18_703+19insCTT	NP_001255968.1:n.703+18_703+19insCTT
NM_001324336.1:c.703+18_703+19insCTT	NP_001311265.1:n.703+18_703+19insCTT
NM_001324337.1:c.703+18_703+19insCTT	NP_001311266.1:n.703+18_703+19insCTT
NR_136749.1:n.116-20549_116-20548insCTT
NM_007373.4:c.703+18_703+19insCTT MANE Select	NP_031399.2:n.703+18_703+19insCTT
NM_001269039.3:c.703+18_703+19insCTT	NP_001255968.1:n.703+18_703+19insCTT
NM_001324336.2:c.703+18_703+19insCTT	NP_001311265.1:n.703+18_703+19insCTT
NM_001324337.2:c.703+18_703+19insCTT	NP_001311266.1:n.703+18_703+19insCTT
NR_136749.2:n.55-20549_55-20548insCTT