Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647631_12647652delinsGGGGCGGGGCCTGGATGGAGAA , CM000681.2:g.12647631_12647652delinsGGGGCGGGGCCTGGATGGAGAA	GRCh38
NC_000019.9:g.12758445_12758466delinsGGGGCGGGGCCTGGATGGAGAA , CM000681.1:g.12758445_12758466delinsGGGGCGGGGCCTGGATGGAGAA	GRCh37
NC_000019.8:g.12619445_12619466delinsGGGGCGGGGCCTGGATGGAGAA	NCBI36
NG_008318.1:g.24126_24147delinsTTCTCCATCCAGGCCCCGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2665-54_2665-33delinsTTCTCCATCCAGGCCCCGCCCC MANE Select	ENSP00000395473.2:n.2665-54_2665-33delinsTTCTCCATCCAGGCCCCGCC...
ENST00000221363.8:c.2662-54_2662-33delinsTTCTCCATCCAGGCCCCGCCCC	ENSP00000221363.4:n.2662-54_2662-33delinsTTCTCCATCCAGGCCCCGCC...
ENST00000456935.6:c.2665-54_2665-33delinsTTCTCCATCCAGGCCCCGCCCC	ENSP00000395473.2:n.2665-54_2665-33delinsTTCTCCATCCAGGCCCCGCC...
ENST00000466794.5:n.3255-54_3255-33delinsTTCTCCATCCAGGCCCCGCCCC
ENST00000493218.5:n.22_43delinsTTCTCCATCCAGGCCCCGCCCC
ENST00000597692.1:c.224-54_224-33delinsTTCTCCATCCAGGCCCCGCCCC
NM_000528.3:c.2665-54_2665-33delinsTTCTCCATCCAGGCCCCGCCCC	NP_000519.2:n.2665-54_2665-33delinsTTCTCCATCCAGGCCCCGCCCC
NM_001173498.1:c.2662-54_2662-33delinsTTCTCCATCCAGGCCCCGCCCC	NP_001166969.1:n.2662-54_2662-33delinsTTCTCCATCCAGGCCCCGCCCC
XM_005259913.1:c.2668-54_2668-33delinsTTCTCCATCCAGGCCCCGCCCC	XP_005259970.1:n.2668-54_2668-33delinsTTCTCCATCCAGGCCCCGCCCC
XM_011528017.1:c.1564-54_1564-33delinsTTCTCCATCCAGGCCCCGCCCC	XP_011526319.1:n.1564-54_1564-33delinsTTCTCCATCCAGGCCCCGCCCC
XM_005259913.2:c.2668-54_2668-33delinsTTCTCCATCCAGGCCCCGCCCC	XP_005259970.1:n.2668-54_2668-33delinsTTCTCCATCCAGGCCCCGCCCC
XM_024451518.1:c.1564-54_1564-33delinsTTCTCCATCCAGGCCCCGCCCC	XP_024307286.1:n.1564-54_1564-33delinsTTCTCCATCCAGGCCCCGCCCC
NM_000528.4:c.2665-54_2665-33delinsTTCTCCATCCAGGCCCCGCCCC MANE Select	NP_000519.2:n.2665-54_2665-33delinsTTCTCCATCCAGGCCCCGCCCC
NM_001173498.2:c.2662-54_2662-33delinsTTCTCCATCCAGGCCCCGCCCC	NP_001166969.1:n.2662-54_2662-33delinsTTCTCCATCCAGGCCCCGCCCC