Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147520_44147521delinsCG , CM000669.2:g.44147520_44147521delinsCG	GRCh38
NC_000007.13:g.44187119_44187120delinsCG , CM000669.1:g.44187119_44187120delinsCG	GRCh37
NC_000007.12:g.44153644_44153645delinsCG	NCBI36
NG_008847.1:g.46903_46904delinsCG
NG_008847.2:g.55650_55651delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.861+129_861+130delinsCG	ENSP00000379142.4:n.861+129_861+130delinsCG
ENST00000616242.5:c.853+139_853+140delinsCG	ENSP00000482149.2:n.853+139_853+140delinsCG
ENST00000345378.7:c.866+129_866+130delinsCG	ENSP00000223366.2:n.866+129_866+130delinsCG
ENST00000403799.8:c.863+129_863+130delinsCG MANE Select	ENSP00000384247.3:n.863+129_863+130delinsCG
ENST00000671824.1:c.854-108_854-107delinsCG	ENSP00000500264.1:n.854-108_854-107delinsCG
ENST00000673284.1:c.863+129_863+130delinsCG	ENSP00000499852.1:n.863+129_863+130delinsCG
ENST00000345378.6:c.866+129_866+130delinsCG	ENSP00000223366.2:n.866+129_866+130delinsCG
ENST00000395796.7:c.860+129_860+130delinsCG	ENSP00000379142.3:n.860+129_860+130delinsCG
ENST00000403799.7:c.863+129_863+130delinsCG	ENSP00000384247.3:n.863+129_863+130delinsCG
ENST00000437084.1:c.812+129_812+130delinsCG	ENSP00000402840.1:n.812+129_812+130delinsCG
ENST00000616242.4:c.860+129_860+130delinsCG	ENSP00000482149.1:n.860+129_860+130delinsCG
NM_000162.3:c.863+129_863+130delinsCG	NP_000153.1:n.863+129_863+130delinsCG
NM_033507.1:c.866+129_866+130delinsCG	NP_277042.1:n.866+129_866+130delinsCG
NM_033508.1:c.860+129_860+130delinsCG	NP_277043.1:n.860+129_860+130delinsCG
NM_000162.4:c.863+129_863+130delinsCG	NP_000153.1:n.863+129_863+130delinsCG
NM_001354800.1:c.863+129_863+130delinsCG	NP_001341729.1:n.863+129_863+130delinsCG
NM_033507.2:c.866+129_866+130delinsCG	NP_277042.1:n.866+129_866+130delinsCG
NM_033508.2:c.860+129_860+130delinsCG	NP_277043.1:n.860+129_860+130delinsCG
NM_000162.5:c.863+129_863+130delinsCG MANE Select	NP_000153.1:n.863+129_863+130delinsCG
NM_033507.3:c.866+129_866+130delinsCG	NP_277042.1:n.866+129_866+130delinsCG
NM_033508.3:c.860+129_860+130delinsCG	NP_277043.1:n.860+129_860+130delinsCG