Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145577_44145578delinsGT , CM000669.2:g.44145577_44145578delinsGT	GRCh38
NC_000007.13:g.44185176_44185177delinsGT , CM000669.1:g.44185176_44185177delinsGT	GRCh37
NC_000007.12:g.44151701_44151702delinsGT	NCBI36
NG_008847.1:g.48846_48847delinsAC
NG_008847.2:g.57593_57594delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1170_1171delinsAC	ENSP00000379142.4:n.1170_1171delinsAC
ENST00000616242.5:c.292_293delinsAC	ENSP00000482149.2:n.292_293delinsAC
ENST00000683378.1:n.398_399delinsAC
ENST00000336642.9:c.206_207delinsAC	ENSP00000338009.5:p.Asn69=
ENST00000345378.7:c.1175_1176delinsAC	ENSP00000223366.2:p.Asn392=
ENST00000403799.8:c.1172_1173delinsAC MANE Select	ENSP00000384247.3:p.Asn391=
ENST00000671824.1:c.1235_1236delinsAC	ENSP00000500264.1:p.Asn412=
ENST00000672743.1:n.184_185delinsAC
ENST00000673284.1:c.1172_1173delinsAC	ENSP00000499852.1:p.Asn391=
ENST00000336642.8:c.224_225delinsAC	ENSP00000338009.4:p.Asn75=
ENST00000345378.6:c.1175_1176delinsAC	ENSP00000223366.2:p.Asn392=
ENST00000395796.7:c.1169_1170delinsAC	ENSP00000379142.3:p.Asn390=
ENST00000403799.7:c.1172_1173delinsAC	ENSP00000384247.3:p.Asn391=
ENST00000437084.1:c.1121_1122delinsAC	ENSP00000402840.1:p.Asn374=
ENST00000459642.1:n.552_553delinsAC
ENST00000616242.4:c.1169_1170delinsAC	ENSP00000482149.1:p.Asn390=
NM_000162.3:c.1172_1173delinsAC	NP_000153.1:p.Asn391=
NM_033507.1:c.1175_1176delinsAC	NP_277042.1:p.Asn392=
NM_033508.1:c.1169_1170delinsAC	NP_277043.1:p.Asn390=
NM_000162.4:c.1172_1173delinsAC	NP_000153.1:p.Asn391=
NM_001354800.1:c.1172_1173delinsAC	NP_001341729.1:p.Asn391=
NM_001354801.1:c.161_162delinsAC	NP_001341730.1:p.Asn54=
NM_001354802.1:c.32_33delinsAC	NP_001341731.1:p.Asn11=
NM_001354803.1:c.206_207delinsAC	NP_001341732.1:p.Asn69=
NM_033507.2:c.1175_1176delinsAC	NP_277042.1:p.Asn392=
NM_033508.2:c.1169_1170delinsAC	NP_277043.1:p.Asn390=
XM_024446707.1:c.32_33delinsAC	XP_024302475.1:p.Asn11=
NM_000162.5:c.1172_1173delinsAC MANE Select	NP_000153.1:p.Asn391=
NM_033507.3:c.1175_1176delinsAC	NP_277042.1:p.Asn392=
NM_033508.3:c.1169_1170delinsAC	NP_277043.1:p.Asn390=
NM_001354803.2:c.206_207delinsAC	NP_001341732.1:p.Asn69=