Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478354_47478355delinsGC , CM000664.2:g.47478354_47478355delinsGC	GRCh38
NC_000002.11:g.47705493_47705494delinsGC , CM000664.1:g.47705493_47705494delinsGC	GRCh37
NC_000002.10:g.47558997_47558998delinsGC	NCBI36
NG_007110.2:g.80231_80232delinsGC , LRG_218:g.80231_80232delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2293_2294delinsGC	ENSP00000495641.2:p.Ala765=
ENST00000233146.7:c.2293_2294delinsGC MANE Select	ENSP00000233146.2:p.Ala765=
ENST00000543555.6:c.2095_2096delinsGC	ENSP00000442697.1:p.Ala699=
ENST00000644092.1:c.593_594delinsGC	ENSP00000496351.1:n.593_594delinsGC
ENST00000644900.1:c.146_147delinsGC
ENST00000645339.1:c.2293_2294delinsGC	ENSP00000496441.1:p.Ala765=
ENST00000645506.1:c.2293_2294delinsGC	ENSP00000495455.1:p.Ala765=
ENST00000646415.1:c.2293_2294delinsGC	ENSP00000495543.1:p.Ala765=
ENST00000233146.6:c.2293_2294delinsGC	ENSP00000233146.2:p.Ala765=
ENST00000406134.5:c.2293_2294delinsGC	ENSP00000384199.1:p.Ala765=
ENST00000543555.5:c.2095_2096delinsGC	ENSP00000442697.1:p.Ala699=
ENST00000610696.4:c.689_690delinsGC	ENSP00000483159.1:n.689_690delinsGC
ENST00000613514.4:c.833_834delinsGC	ENSP00000484137.1:n.833_834delinsGC
ENST00000617333.3:c.1059_1060delinsGC	ENSP00000482468.1:n.1059_1060delinsGC
ENST00000617938.4:c.1265_1266delinsGC	ENSP00000481158.1:n.1265_1266delinsGC
ENST00000621359.2:c.2293_2294delinsGC	ENSP00000481416.1:p.Ala765=
NM_000251.2:c.2293_2294delinsGC , LRG_218t1:c.2293_2294delinsGC	NP_000242.1:p.Ala765=
NM_001258281.1:c.2095_2096delinsGC	NP_001245210.1:p.Ala699=
XM_005264332.2:c.2293_2294delinsGC	XP_005264389.2:p.Ala765=
XM_011532867.1:c.2293_2294delinsGC	XP_011531169.1:p.Ala765=
XR_939685.1:n.2365_2366delinsGC
XM_005264332.4:c.2293_2294delinsGC	XP_005264389.2:p.Ala765=
XM_011532867.2:c.2293_2294delinsGC	XP_011531169.1:p.Ala765=
XR_001738747.2:n.2355_2356delinsGC
XR_939685.2:n.2355_2356delinsGC
NM_000251.3:c.2293_2294delinsGC MANE Select	NP_000242.1:p.Ala765=