Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647610_12647631delinsAGGGCGGGGCTGAGTTGGAGAG , CM000681.2:g.12647610_12647631delinsAGGGCGGGGCTGAGTTGGAGAG	GRCh38
NC_000019.9:g.12758424_12758445delinsAGGGCGGGGCTGAGTTGGAGAG , CM000681.1:g.12758424_12758445delinsAGGGCGGGGCTGAGTTGGAGAG	GRCh37
NC_000019.8:g.12619424_12619445delinsAGGGCGGGGCTGAGTTGGAGAG	NCBI36
NG_008318.1:g.24147_24168delinsCTCTCCAACTCAGCCCCGCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2665-33_2665-12delinsCTCTCCAACTCAGCCCCGCCCT MANE Select	ENSP00000395473.2:n.2665-33_2665-12delinsCTCTCCAACTCAGCCCCGCC...
ENST00000221363.8:c.2662-33_2662-12delinsCTCTCCAACTCAGCCCCGCCCT	ENSP00000221363.4:n.2662-33_2662-12delinsCTCTCCAACTCAGCCCCGCC...
ENST00000456935.6:c.2665-33_2665-12delinsCTCTCCAACTCAGCCCCGCCCT	ENSP00000395473.2:n.2665-33_2665-12delinsCTCTCCAACTCAGCCCCGCC...
ENST00000466794.5:n.3255-33_3255-12delinsCTCTCCAACTCAGCCCCGCCCT
ENST00000493218.5:n.43_64delinsCTCTCCAACTCAGCCCCGCCCT
ENST00000597692.1:c.224-33_224-12delinsCTCTCCAACTCAGCCCCGCCCT
NM_000528.3:c.2665-33_2665-12delinsCTCTCCAACTCAGCCCCGCCCT	NP_000519.2:n.2665-33_2665-12delinsCTCTCCAACTCAGCCCCGCCCT
NM_001173498.1:c.2662-33_2662-12delinsCTCTCCAACTCAGCCCCGCCCT	NP_001166969.1:n.2662-33_2662-12delinsCTCTCCAACTCAGCCCCGCCCT
XM_005259913.1:c.2668-33_2668-12delinsCTCTCCAACTCAGCCCCGCCCT	XP_005259970.1:n.2668-33_2668-12delinsCTCTCCAACTCAGCCCCGCCCT
XM_011528017.1:c.1564-33_1564-12delinsCTCTCCAACTCAGCCCCGCCCT	XP_011526319.1:n.1564-33_1564-12delinsCTCTCCAACTCAGCCCCGCCCT
XM_005259913.2:c.2668-33_2668-12delinsCTCTCCAACTCAGCCCCGCCCT	XP_005259970.1:n.2668-33_2668-12delinsCTCTCCAACTCAGCCCCGCCCT
XM_024451518.1:c.1564-33_1564-12delinsCTCTCCAACTCAGCCCCGCCCT	XP_024307286.1:n.1564-33_1564-12delinsCTCTCCAACTCAGCCCCGCCCT
NM_000528.4:c.2665-33_2665-12delinsCTCTCCAACTCAGCCCCGCCCT MANE Select	NP_000519.2:n.2665-33_2665-12delinsCTCTCCAACTCAGCCCCGCCCT
NM_001173498.2:c.2662-33_2662-12delinsCTCTCCAACTCAGCCCCGCCCT	NP_001166969.1:n.2662-33_2662-12delinsCTCTCCAACTCAGCCCCGCCCT