Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147874_44147875delinsTG , CM000669.2:g.44147874_44147875delinsTG	GRCh38
NC_000007.13:g.44187473_44187474delinsTG , CM000669.1:g.44187473_44187474delinsTG	GRCh37
NC_000007.12:g.44153998_44153999delinsTG	NCBI36
NG_008847.1:g.46549_46550delinsCA
NG_008847.2:g.55296_55297delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.678-42_678-41delinsCA	ENSP00000379142.4:n.678-42_678-41delinsCA
ENST00000616242.5:c.680-42_680-41delinsCA	ENSP00000482149.2:n.680-42_680-41delinsCA
ENST00000345378.7:c.683-42_683-41delinsCA	ENSP00000223366.2:n.683-42_683-41delinsCA
ENST00000403799.8:c.680-42_680-41delinsCA MANE Select	ENSP00000384247.3:n.680-42_680-41delinsCA
ENST00000671824.1:c.680-42_680-41delinsCA	ENSP00000500264.1:n.680-42_680-41delinsCA
ENST00000673284.1:c.680-42_680-41delinsCA	ENSP00000499852.1:n.680-42_680-41delinsCA
ENST00000345378.6:c.683-42_683-41delinsCA	ENSP00000223366.2:n.683-42_683-41delinsCA
ENST00000395796.7:c.677-42_677-41delinsCA	ENSP00000379142.3:n.677-42_677-41delinsCA
ENST00000403799.7:c.680-42_680-41delinsCA	ENSP00000384247.3:n.680-42_680-41delinsCA
ENST00000437084.1:c.629-42_629-41delinsCA	ENSP00000402840.1:n.629-42_629-41delinsCA
ENST00000616242.4:c.677-42_677-41delinsCA	ENSP00000482149.1:n.677-42_677-41delinsCA
NM_000162.3:c.680-42_680-41delinsCA	NP_000153.1:n.680-42_680-41delinsCA
NM_033507.1:c.683-42_683-41delinsCA	NP_277042.1:n.683-42_683-41delinsCA
NM_033508.1:c.677-42_677-41delinsCA	NP_277043.1:n.677-42_677-41delinsCA
XR_927223.1:n.82+126_82+127delinsTG
NM_000162.4:c.680-42_680-41delinsCA	NP_000153.1:n.680-42_680-41delinsCA
NM_001354800.1:c.680-42_680-41delinsCA	NP_001341729.1:n.680-42_680-41delinsCA
NM_033507.2:c.683-42_683-41delinsCA	NP_277042.1:n.683-42_683-41delinsCA
NM_033508.2:c.677-42_677-41delinsCA	NP_277043.1:n.677-42_677-41delinsCA
XR_927223.2:n.82+126_82+127delinsTG
NM_000162.5:c.680-42_680-41delinsCA MANE Select	NP_000153.1:n.680-42_680-41delinsCA
NM_033507.3:c.683-42_683-41delinsCA	NP_277042.1:n.683-42_683-41delinsCA
NM_033508.3:c.677-42_677-41delinsCA	NP_277043.1:n.677-42_677-41delinsCA