Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478363_47478364delinsGA , CM000664.2:g.47478363_47478364delinsGA	GRCh38
NC_000002.11:g.47705502_47705503delinsGA , CM000664.1:g.47705502_47705503delinsGA	GRCh37
NC_000002.10:g.47559006_47559007delinsGA	NCBI36
NG_007110.2:g.80240_80241delinsGA , LRG_218:g.80240_80241delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2302_2303delinsGA	ENSP00000495641.2:p.Glu768=
ENST00000233146.7:c.2302_2303delinsGA MANE Select	ENSP00000233146.2:p.Glu768=
ENST00000543555.6:c.2104_2105delinsGA	ENSP00000442697.1:p.Glu702=
ENST00000644092.1:c.602_603delinsGA	ENSP00000496351.1:n.602_603delinsGA
ENST00000644900.1:c.155_156delinsGA
ENST00000645339.1:c.2302_2303delinsGA	ENSP00000496441.1:p.Glu768=
ENST00000645506.1:c.2302_2303delinsGA	ENSP00000495455.1:p.Glu768=
ENST00000646415.1:c.2302_2303delinsGA	ENSP00000495543.1:p.Glu768=
ENST00000233146.6:c.2302_2303delinsGA	ENSP00000233146.2:p.Glu768=
ENST00000406134.5:c.2302_2303delinsGA	ENSP00000384199.1:p.Glu768=
ENST00000543555.5:c.2104_2105delinsGA	ENSP00000442697.1:p.Glu702=
ENST00000610696.4:c.698_699delinsGA	ENSP00000483159.1:n.698_699delinsGA
ENST00000613514.4:c.842_843delinsGA	ENSP00000484137.1:n.842_843delinsGA
ENST00000617333.3:c.1068_1069delinsGA	ENSP00000482468.1:n.1068_1069delinsGA
ENST00000617938.4:c.1274_1275delinsGA	ENSP00000481158.1:n.1274_1275delinsGA
ENST00000621359.2:c.2302_2303delinsGA	ENSP00000481416.1:p.Glu768=
NM_000251.2:c.2302_2303delinsGA , LRG_218t1:c.2302_2303delinsGA	NP_000242.1:p.Glu768=
NM_001258281.1:c.2104_2105delinsGA	NP_001245210.1:p.Glu702=
XM_005264332.2:c.2302_2303delinsGA	XP_005264389.2:p.Glu768=
XM_011532867.1:c.2302_2303delinsGA	XP_011531169.1:p.Glu768=
XR_939685.1:n.2374_2375delinsGA
XM_005264332.4:c.2302_2303delinsGA	XP_005264389.2:p.Glu768=
XM_011532867.2:c.2302_2303delinsGA	XP_011531169.1:p.Glu768=
XR_001738747.2:n.2364_2365delinsGA
XR_939685.2:n.2364_2365delinsGA
NM_000251.3:c.2302_2303delinsGA MANE Select	NP_000242.1:p.Glu768=