Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44147522_44147523delinsGA , CM000669.2:g.44147522_44147523delinsGA	GRCh38
NC_000007.13:g.44187121_44187122delinsGA , CM000669.1:g.44187121_44187122delinsGA	GRCh37
NC_000007.12:g.44153646_44153647delinsGA	NCBI36
NG_008847.1:g.46901_46902delinsTC
NG_008847.2:g.55648_55649delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.861+127_861+128delinsTC	ENSP00000379142.4:n.861+127_861+128delinsTC
ENST00000616242.5:c.853+137_853+138delinsTC	ENSP00000482149.2:n.853+137_853+138delinsTC
ENST00000345378.7:c.866+127_866+128delinsTC	ENSP00000223366.2:n.866+127_866+128delinsTC
ENST00000403799.8:c.863+127_863+128delinsTC MANE Select	ENSP00000384247.3:n.863+127_863+128delinsTC
ENST00000671824.1:c.854-110_854-109delinsTC	ENSP00000500264.1:n.854-110_854-109delinsTC
ENST00000673284.1:c.863+127_863+128delinsTC	ENSP00000499852.1:n.863+127_863+128delinsTC
ENST00000345378.6:c.866+127_866+128delinsTC	ENSP00000223366.2:n.866+127_866+128delinsTC
ENST00000395796.7:c.860+127_860+128delinsTC	ENSP00000379142.3:n.860+127_860+128delinsTC
ENST00000403799.7:c.863+127_863+128delinsTC	ENSP00000384247.3:n.863+127_863+128delinsTC
ENST00000437084.1:c.812+127_812+128delinsTC	ENSP00000402840.1:n.812+127_812+128delinsTC
ENST00000616242.4:c.860+127_860+128delinsTC	ENSP00000482149.1:n.860+127_860+128delinsTC
NM_000162.3:c.863+127_863+128delinsTC	NP_000153.1:n.863+127_863+128delinsTC
NM_033507.1:c.866+127_866+128delinsTC	NP_277042.1:n.866+127_866+128delinsTC
NM_033508.1:c.860+127_860+128delinsTC	NP_277043.1:n.860+127_860+128delinsTC
NM_000162.4:c.863+127_863+128delinsTC	NP_000153.1:n.863+127_863+128delinsTC
NM_001354800.1:c.863+127_863+128delinsTC	NP_001341729.1:n.863+127_863+128delinsTC
NM_033507.2:c.866+127_866+128delinsTC	NP_277042.1:n.866+127_866+128delinsTC
NM_033508.2:c.860+127_860+128delinsTC	NP_277043.1:n.860+127_860+128delinsTC
NM_000162.5:c.863+127_863+128delinsTC MANE Select	NP_000153.1:n.863+127_863+128delinsTC
NM_033507.3:c.866+127_866+128delinsTC	NP_277042.1:n.866+127_866+128delinsTC
NM_033508.3:c.860+127_860+128delinsTC	NP_277043.1:n.860+127_860+128delinsTC