Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942977_77942985delinsCTGTGGCGG , CM000663.2:g.77942977_77942985delinsCTGTGGCGG	GRCh38
NC_000001.10:g.78408662_78408670delinsCTGTGGCGG , CM000663.1:g.78408662_78408670delinsCTGTGGCGG	GRCh37
NC_000001.9:g.78181250_78181258delinsCTGTGGCGG	NCBI36
NG_016625.1:g.59463_59471delinsCTGTGGCGG , LRG_442:g.59463_59471delinsCTGTGGCGG
NG_033243.2:g.41109_41117delinsCCGCCACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.148_156delinsCTGTGGCGG MANE Select	ENSP00000333938.7:n.148_156delinsCTGTGGCGG
ENST00000330010.12:c.148_156delinsCTGTGGCGG	ENSP00000327363.8:n.148_156delinsCTGTGGCGG
ENST00000334785.11:c.148_156delinsCTGTGGCGG	ENSP00000333938.7:n.148_156delinsCTGTGGCGG
ENST00000342754.5:c.1794_1802delinsCTGTGGCGG
ENST00000480732.2:n.1750_1758delinsCTGTGGCGG
NM_001172309.1:c.148_156delinsCTGTGGCGG	NP_001165780.1:n.148_156delinsCTGTGGCGG
NM_144573.3:c.148_156delinsCTGTGGCGG , LRG_442t1:c.148_156delinsCTGTGGCGG	NP_653174.3:n.148_156delinsCTGTGGCGG
XM_005271322.2:c.64_72delinsCTGTGGCGG	XP_005271379.1:n.64_72delinsCTGTGGCGG
XM_005271323.2:c.64_72delinsCTGTGGCGG	XP_005271380.1:n.64_72delinsCTGTGGCGG
XM_005271324.3:c.64_72delinsCTGTGGCGG	XP_005271381.1:n.64_72delinsCTGTGGCGG
XM_005271325.2:c.64_72delinsCTGTGGCGG	XP_005271382.1:n.64_72delinsCTGTGGCGG
XM_005271326.2:c.64_72delinsCTGTGGCGG	XP_005271383.1:n.64_72delinsCTGTGGCGG
XM_005271327.2:c.64_72delinsCTGTGGCGG	XP_005271384.1:n.64_72delinsCTGTGGCGG
XM_005271322.4:c.64_72delinsCTGTGGCGG	XP_005271379.1:n.64_72delinsCTGTGGCGG
XM_005271323.4:c.64_72delinsCTGTGGCGG	XP_005271380.1:n.64_72delinsCTGTGGCGG
XM_005271324.5:c.64_72delinsCTGTGGCGG	XP_005271381.1:n.64_72delinsCTGTGGCGG
XM_005271325.4:c.64_72delinsCTGTGGCGG	XP_005271382.1:n.64_72delinsCTGTGGCGG
XM_005271326.4:c.64_72delinsCTGTGGCGG	XP_005271383.1:n.64_72delinsCTGTGGCGG
XM_005271327.4:c.64_72delinsCTGTGGCGG	XP_005271384.1:n.64_72delinsCTGTGGCGG
NM_001172309.2:c.148_156delinsCTGTGGCGG	NP_001165780.1:n.148_156delinsCTGTGGCGG
NM_144573.4:c.148_156delinsCTGTGGCGG MANE Select	NP_653174.3:n.148_156delinsCTGTGGCGG

HGVS	Amino-acid Change
ENST00000334785.12:c.148_156delinsCTGTGGCGG MANE Select	ENSP00000333938.7:n.148_156delinsCTGTGGCGG
ENST00000330010.12:c.148_156delinsCTGTGGCGG	ENSP00000327363.8:n.148_156delinsCTGTGGCGG
ENST00000334785.11:c.148_156delinsCTGTGGCGG	ENSP00000333938.7:n.148_156delinsCTGTGGCGG
ENST00000342754.5:c.1794_1802delinsCTGTGGCGG
ENST00000480732.2:n.1750_1758delinsCTGTGGCGG
NM_001172309.1:c.148_156delinsCTGTGGCGG	NP_001165780.1:n.148_156delinsCTGTGGCGG
NM_144573.3:c.148_156delinsCTGTGGCGG , LRG_442t1:c.148_156delinsCTGTGGCGG	NP_653174.3:n.148_156delinsCTGTGGCGG
XM_005271322.2:c.64_72delinsCTGTGGCGG	XP_005271379.1:n.64_72delinsCTGTGGCGG
XM_005271323.2:c.64_72delinsCTGTGGCGG	XP_005271380.1:n.64_72delinsCTGTGGCGG
XM_005271324.3:c.64_72delinsCTGTGGCGG	XP_005271381.1:n.64_72delinsCTGTGGCGG
XM_005271325.2:c.64_72delinsCTGTGGCGG	XP_005271382.1:n.64_72delinsCTGTGGCGG
XM_005271326.2:c.64_72delinsCTGTGGCGG	XP_005271383.1:n.64_72delinsCTGTGGCGG
XM_005271327.2:c.64_72delinsCTGTGGCGG	XP_005271384.1:n.64_72delinsCTGTGGCGG
XM_005271322.4:c.64_72delinsCTGTGGCGG	XP_005271379.1:n.64_72delinsCTGTGGCGG
XM_005271323.4:c.64_72delinsCTGTGGCGG	XP_005271380.1:n.64_72delinsCTGTGGCGG
XM_005271324.5:c.64_72delinsCTGTGGCGG	XP_005271381.1:n.64_72delinsCTGTGGCGG
XM_005271325.4:c.64_72delinsCTGTGGCGG	XP_005271382.1:n.64_72delinsCTGTGGCGG
XM_005271326.4:c.64_72delinsCTGTGGCGG	XP_005271383.1:n.64_72delinsCTGTGGCGG
XM_005271327.4:c.64_72delinsCTGTGGCGG	XP_005271384.1:n.64_72delinsCTGTGGCGG
NM_001172309.2:c.148_156delinsCTGTGGCGG	NP_001165780.1:n.148_156delinsCTGTGGCGG
NM_144573.4:c.148_156delinsCTGTGGCGG MANE Select	NP_653174.3:n.148_156delinsCTGTGGCGG