Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47416307_47416312delinsAGATAC , CM000664.2:g.47416307_47416312delinsAGATAC	GRCh38
NC_000002.11:g.47643446_47643451delinsAGATAC , CM000664.1:g.47643446_47643451delinsAGATAC	GRCh37
NC_000002.10:g.47496950_47496955delinsAGATAC	NCBI36
NG_007110.2:g.18184_18189delinsAGATAC , LRG_218:g.18184_18189delinsAGATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.954_959delinsAGATAC	ENSP00000495641.2:p.Glu318=
ENST00000233146.7:c.954_959delinsAGATAC MANE Select	ENSP00000233146.2:p.Glu318=
ENST00000543555.6:c.756_761delinsAGATAC	ENSP00000442697.1:p.Glu252=
ENST00000644092.1:c.954_959delinsAGATAC	ENSP00000496351.1:p.Glu318=
ENST00000645339.1:c.954_959delinsAGATAC	ENSP00000496441.1:p.Glu318=
ENST00000645506.1:c.954_959delinsAGATAC	ENSP00000495455.1:p.Glu318=
ENST00000646415.1:c.954_959delinsAGATAC	ENSP00000495543.1:p.Glu318=
ENST00000233146.6:c.954_959delinsAGATAC	ENSP00000233146.2:p.Glu318=
ENST00000406134.5:c.954_959delinsAGATAC	ENSP00000384199.1:p.Glu318=
ENST00000543555.5:c.756_761delinsAGATAC	ENSP00000442697.1:p.Glu252=
ENST00000610696.4:c.954_959delinsAGATAC	ENSP00000483159.1:p.Glu318=
ENST00000613514.4:c.954_959delinsAGATAC	ENSP00000484137.1:p.Glu318=
ENST00000617333.3:c.954_959delinsAGATAC	ENSP00000482468.1:p.Glu318=
ENST00000617938.4:c.954_959delinsAGATAC	ENSP00000481158.1:p.Glu318=
ENST00000621359.2:c.954_959delinsAGATAC	ENSP00000481416.1:p.Glu318=
NM_000251.2:c.954_959delinsAGATAC , LRG_218t1:c.954_959delinsAGATAC	NP_000242.1:p.Glu318=
NM_001258281.1:c.756_761delinsAGATAC	NP_001245210.1:p.Glu252=
XM_005264332.2:c.954_959delinsAGATAC	XP_005264389.2:p.Glu318=
XM_011532867.1:c.954_959delinsAGATAC	XP_011531169.1:p.Glu318=
XR_939685.1:n.1026_1031delinsAGATAC
XM_005264332.4:c.954_959delinsAGATAC	XP_005264389.2:p.Glu318=
XM_011532867.2:c.954_959delinsAGATAC	XP_011531169.1:p.Glu318=
XR_001738747.2:n.1016_1021delinsAGATAC
XR_939685.2:n.1016_1021delinsAGATAC
NM_000251.3:c.954_959delinsAGATAC MANE Select	NP_000242.1:p.Glu318=