Allele Registry

HGVS	Genome Assembly
NC_000019.10:g.1226602_1226633delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT , CM000681.2:g.1226602_1226633delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT	GRCh38
NC_000019.9:g.1226601_1226632delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT , CM000681.1:g.1226601_1226632delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT	GRCh37
NC_000019.8:g.1177601_1177632delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT	NCBI36
NG_007460.2:g.42196_42227delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT , LRG_319:g.42196_42227delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT

HGVS	Amino-acid Change
ENST00000585465.3:c.2858_2889delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT	ENSP00000490268.2:n.2858_2889delinsCGCCAGCAGCAAGATCCGCCGGCT...
ENST00000585748.3:c.885_916delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT	ENSP00000477641.2:p.Ser295=
ENST00000585851.2:c.1083_1114delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT	ENSP00000467912.2:p.Ser361=
ENST00000326873.12:c.1257_1288delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT MANE Select	ENSP00000324856.6:p.Ser419=
ENST00000326873.11:c.1257_1288delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT	ENSP00000324856.6:p.Ser419=
ENST00000585465.2:n.2990_3021delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT
ENST00000586243.5:c.1255-1_1285delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT
ENST00000589152.5:n.1955_1986delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT
NM_000455.4:c.1257_1288delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT , LRG_319t1:c.1257_1288delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT	NP_000446.1:p.Ser419=
XM_005259617.1:c.1252_1283delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT	XP_005259674.1:p.Arg418=
XM_011528209.1:c.1030_1061delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT	XP_011526511.1:p.Arg344=
XM_005259617.3:c.1252_1283delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT	XP_005259674.1:p.Arg418=
XM_011528209.2:c.1030_1061delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT	XP_011526511.1:p.Arg344=
XR_001753738.2:n.2063_2094delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT
XR_001753740.2:n.2033_2064delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT
NM_000455.5:c.1257_1288delinsCGCCAGCAGCAAGATCCGCCGGCTGTCGGCCT MANE Select	NP_000446.1:p.Ser419=