Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478365_47478366delinsAT , CM000664.2:g.47478365_47478366delinsAT	GRCh38
NC_000002.11:g.47705504_47705505delinsAT , CM000664.1:g.47705504_47705505delinsAT	GRCh37
NC_000002.10:g.47559008_47559009delinsAT	NCBI36
NG_007110.2:g.80242_80243delinsAT , LRG_218:g.80242_80243delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2304_2305delinsAT	ENSP00000495641.2:p.Glu768=
ENST00000233146.7:c.2304_2305delinsAT MANE Select	ENSP00000233146.2:p.Glu768=
ENST00000543555.6:c.2106_2107delinsAT	ENSP00000442697.1:p.Glu702=
ENST00000644092.1:c.604_605delinsAT	ENSP00000496351.1:n.604_605delinsAT
ENST00000644900.1:c.157_158delinsAT
ENST00000645339.1:c.2304_2305delinsAT	ENSP00000496441.1:p.Glu768=
ENST00000645506.1:c.2304_2305delinsAT	ENSP00000495455.1:p.Glu768=
ENST00000646415.1:c.2304_2305delinsAT	ENSP00000495543.1:p.Glu768=
ENST00000233146.6:c.2304_2305delinsAT	ENSP00000233146.2:p.Glu768=
ENST00000406134.5:c.2304_2305delinsAT	ENSP00000384199.1:p.Glu768=
ENST00000543555.5:c.2106_2107delinsAT	ENSP00000442697.1:p.Glu702=
ENST00000610696.4:c.700_701delinsAT	ENSP00000483159.1:n.700_701delinsAT
ENST00000613514.4:c.844_845delinsAT	ENSP00000484137.1:n.844_845delinsAT
ENST00000617333.3:c.1070_1071delinsAT	ENSP00000482468.1:n.1070_1071delinsAT
ENST00000617938.4:c.1276_1277delinsAT	ENSP00000481158.1:n.1276_1277delinsAT
ENST00000621359.2:c.2304_2305delinsAT	ENSP00000481416.1:p.Glu768=
NM_000251.2:c.2304_2305delinsAT , LRG_218t1:c.2304_2305delinsAT	NP_000242.1:p.Glu768=
NM_001258281.1:c.2106_2107delinsAT	NP_001245210.1:p.Glu702=
XM_005264332.2:c.2304_2305delinsAT	XP_005264389.2:p.Glu768=
XM_011532867.1:c.2304_2305delinsAT	XP_011531169.1:p.Glu768=
XR_939685.1:n.2376_2377delinsAT
XM_005264332.4:c.2304_2305delinsAT	XP_005264389.2:p.Glu768=
XM_011532867.2:c.2304_2305delinsAT	XP_011531169.1:p.Glu768=
XR_001738747.2:n.2366_2367delinsAT
XR_939685.2:n.2366_2367delinsAT
NM_000251.3:c.2304_2305delinsAT MANE Select	NP_000242.1:p.Glu768=