Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476513_47476514delinsCA , CM000664.2:g.47476513_47476514delinsCA	GRCh38
NC_000002.11:g.47703652_47703653delinsCA , CM000664.1:g.47703652_47703653delinsCA	GRCh37
NC_000002.10:g.47557156_47557157delinsCA	NCBI36
NG_007110.2:g.78390_78391delinsCA , LRG_218:g.78390_78391delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2152_2153delinsCA	ENSP00000495641.2:p.Gln718=
ENST00000233146.7:c.2152_2153delinsCA MANE Select	ENSP00000233146.2:p.Gln718=
ENST00000543555.6:c.1954_1955delinsCA	ENSP00000442697.1:p.Gln652=
ENST00000644092.1:c.452_453delinsCA	ENSP00000496351.1:n.452_453delinsCA
ENST00000644900.1:c.5_6delinsCA
ENST00000645339.1:c.2152_2153delinsCA	ENSP00000496441.1:p.Gln718=
ENST00000645506.1:c.2152_2153delinsCA	ENSP00000495455.1:p.Gln718=
ENST00000646415.1:c.2152_2153delinsCA	ENSP00000495543.1:p.Gln718=
ENST00000233146.6:c.2152_2153delinsCA	ENSP00000233146.2:p.Gln718=
ENST00000406134.5:c.2152_2153delinsCA	ENSP00000384199.1:p.Gln718=
ENST00000543555.5:c.1954_1955delinsCA	ENSP00000442697.1:p.Gln652=
ENST00000610696.4:c.548_549delinsCA	ENSP00000483159.1:n.548_549delinsCA
ENST00000613514.4:c.692_693delinsCA	ENSP00000484137.1:n.692_693delinsCA
ENST00000617333.3:c.918_919delinsCA	ENSP00000482468.1:n.918_919delinsCA
ENST00000617938.4:c.1124_1125delinsCA	ENSP00000481158.1:n.1124_1125delinsCA
ENST00000621359.2:c.2152_2153delinsCA	ENSP00000481416.1:p.Gln718=
NM_000251.2:c.2152_2153delinsCA , LRG_218t1:c.2152_2153delinsCA	NP_000242.1:p.Gln718=
NM_001258281.1:c.1954_1955delinsCA	NP_001245210.1:p.Gln652=
XM_005264332.2:c.2152_2153delinsCA	XP_005264389.2:p.Gln718=
XM_011532867.1:c.2152_2153delinsCA	XP_011531169.1:p.Gln718=
XR_939685.1:n.2224_2225delinsCA
XM_005264332.4:c.2152_2153delinsCA	XP_005264389.2:p.Gln718=
XM_011532867.2:c.2152_2153delinsCA	XP_011531169.1:p.Gln718=
XR_001738747.2:n.2214_2215delinsCA
XR_939685.2:n.2214_2215delinsCA
NM_000251.3:c.2152_2153delinsCA MANE Select	NP_000242.1:p.Gln718=