Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221949_7221951delinsCAG , CM000679.2:g.7221949_7221951delinsCAG	GRCh38
NC_000017.10:g.7125268_7125270delinsCAG , CM000679.1:g.7125268_7125270delinsCAG	GRCh37
NC_000017.9:g.7065992_7065994delinsCAG	NCBI36
NG_007975.1:g.7116_7118delinsCAG
NG_008391.2:g.3100_3102delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.623-3_623-1delinsCAG MANE Select	ENSP00000349297.5:n.623-3_623-1delinsCAG
ENST00000322910.9:c.578-3_578-1delinsCAG	ENSP00000325395.5:n.578-3_578-1delinsCAG
ENST00000350303.9:c.557-3_557-1delinsCAG	ENSP00000344152.5:n.557-3_557-1delinsCAG
ENST00000356839.9:c.623-3_623-1delinsCAG	ENSP00000349297.5:n.623-3_623-1delinsCAG
ENST00000543245.6:c.692-3_692-1delinsCAG	ENSP00000438689.2:n.692-3_692-1delinsCAG
ENST00000577191.5:n.700-3_700-1delinsCAG
ENST00000577857.5:n.439-3_439-1delinsCAG
ENST00000579286.5:n.804-3_804-1delinsCAG
ENST00000579886.2:c.461-3_461-1delinsCAG	ENSP00000463246.1:n.461-3_461-1delinsCAG
ENST00000580365.1:n.354-3_354-1delinsCAG
ENST00000581378.5:c.341-3_341-1delinsCAG
ENST00000581562.5:n.525-3_525-1delinsCAG
ENST00000582379.1:n.4_6delinsCAG
ENST00000583312.5:c.635_637delinsCAG	ENSP00000467920.1:p.Thr212=
ENST00000583760.1:n.405-3_405-1delinsCAG
NM_000018.3:c.623-3_623-1delinsCAG	NP_000009.1:n.623-3_623-1delinsCAG
NM_001033859.2:c.557-3_557-1delinsCAG	NP_001029031.1:n.557-3_557-1delinsCAG
NM_001270447.1:c.692-3_692-1delinsCAG	NP_001257376.1:n.692-3_692-1delinsCAG
NM_001270448.1:c.395-3_395-1delinsCAG	NP_001257377.1:n.395-3_395-1delinsCAG
XM_006721516.2:c.623-3_623-1delinsCAG	XP_006721579.2:n.623-3_623-1delinsCAG
XM_011523829.1:c.623-3_623-1delinsCAG	XP_011522131.1:n.623-3_623-1delinsCAG
XM_011523830.1:c.623-3_623-1delinsCAG	XP_011522132.1:n.623-3_623-1delinsCAG
XR_934021.1:n.730-3_730-1delinsCAG
XR_934022.1:n.730-3_730-1delinsCAG
XR_934023.1:n.730-3_730-1delinsCAG
XM_006721516.3:c.623-3_623-1delinsCAG	XP_006721579.2:n.623-3_623-1delinsCAG
XM_011523829.2:c.623-3_623-1delinsCAG	XP_011522131.1:n.623-3_623-1delinsCAG
XM_011523830.2:c.623-3_623-1delinsCAG	XP_011522132.1:n.623-3_623-1delinsCAG
XM_024450741.1:c.623-3_623-1delinsCAG	XP_024306509.1:n.623-3_623-1delinsCAG
XR_934021.2:n.682-3_682-1delinsCAG
XR_934022.2:n.682-3_682-1delinsCAG
XR_934023.2:n.682-3_682-1delinsCAG
NM_000018.4:c.623-3_623-1delinsCAG MANE Select	NP_000009.1:n.623-3_623-1delinsCAG
NM_001033859.3:c.557-3_557-1delinsCAG	NP_001029031.1:n.557-3_557-1delinsCAG
NM_001270447.2:c.692-3_692-1delinsCAG	NP_001257376.1:n.692-3_692-1delinsCAG
NM_001270448.2:c.395-3_395-1delinsCAG	NP_001257377.1:n.395-3_395-1delinsCAG