Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221950_7221951delinsAG , CM000679.2:g.7221950_7221951delinsAG	GRCh38
NC_000017.10:g.7125269_7125270delinsAG , CM000679.1:g.7125269_7125270delinsAG	GRCh37
NC_000017.9:g.7065993_7065994delinsAG	NCBI36
NG_007975.1:g.7117_7118delinsAG
NG_008391.2:g.3100_3101delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.623-2_623-1delinsAG MANE Select	ENSP00000349297.5:n.623-2_623-1delinsAG
ENST00000322910.9:c.578-2_578-1delinsAG	ENSP00000325395.5:n.578-2_578-1delinsAG
ENST00000350303.9:c.557-2_557-1delinsAG	ENSP00000344152.5:n.557-2_557-1delinsAG
ENST00000356839.9:c.623-2_623-1delinsAG	ENSP00000349297.5:n.623-2_623-1delinsAG
ENST00000543245.6:c.692-2_692-1delinsAG	ENSP00000438689.2:n.692-2_692-1delinsAG
ENST00000577191.5:n.700-2_700-1delinsAG
ENST00000577857.5:n.439-2_439-1delinsAG
ENST00000579286.5:n.804-2_804-1delinsAG
ENST00000579886.2:c.461-2_461-1delinsAG	ENSP00000463246.1:n.461-2_461-1delinsAG
ENST00000580365.1:n.354-2_354-1delinsAG
ENST00000581378.5:c.341-2_341-1delinsAG
ENST00000581562.5:n.525-2_525-1delinsAG
ENST00000582379.1:n.5_6delinsAG
ENST00000583312.5:c.636_637delinsAG	ENSP00000467920.1:p.Thr212=
ENST00000583760.1:n.405-2_405-1delinsAG
NM_000018.3:c.623-2_623-1delinsAG	NP_000009.1:n.623-2_623-1delinsAG
NM_001033859.2:c.557-2_557-1delinsAG	NP_001029031.1:n.557-2_557-1delinsAG
NM_001270447.1:c.692-2_692-1delinsAG	NP_001257376.1:n.692-2_692-1delinsAG
NM_001270448.1:c.395-2_395-1delinsAG	NP_001257377.1:n.395-2_395-1delinsAG
XM_006721516.2:c.623-2_623-1delinsAG	XP_006721579.2:n.623-2_623-1delinsAG
XM_011523829.1:c.623-2_623-1delinsAG	XP_011522131.1:n.623-2_623-1delinsAG
XM_011523830.1:c.623-2_623-1delinsAG	XP_011522132.1:n.623-2_623-1delinsAG
XR_934021.1:n.730-2_730-1delinsAG
XR_934022.1:n.730-2_730-1delinsAG
XR_934023.1:n.730-2_730-1delinsAG
XM_006721516.3:c.623-2_623-1delinsAG	XP_006721579.2:n.623-2_623-1delinsAG
XM_011523829.2:c.623-2_623-1delinsAG	XP_011522131.1:n.623-2_623-1delinsAG
XM_011523830.2:c.623-2_623-1delinsAG	XP_011522132.1:n.623-2_623-1delinsAG
XM_024450741.1:c.623-2_623-1delinsAG	XP_024306509.1:n.623-2_623-1delinsAG
XR_934021.2:n.682-2_682-1delinsAG
XR_934022.2:n.682-2_682-1delinsAG
XR_934023.2:n.682-2_682-1delinsAG
NM_000018.4:c.623-2_623-1delinsAG MANE Select	NP_000009.1:n.623-2_623-1delinsAG
NM_001033859.3:c.557-2_557-1delinsAG	NP_001029031.1:n.557-2_557-1delinsAG
NM_001270447.2:c.692-2_692-1delinsAG	NP_001257376.1:n.692-2_692-1delinsAG
NM_001270448.2:c.395-2_395-1delinsAG	NP_001257377.1:n.395-2_395-1delinsAG