Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.51784862_51784863insACTC , CM000682.2:g.51784862_51784863insACTC	GRCh38
NC_000020.10:g.50401401_50401402insACTC , CM000682.1:g.50401401_50401402insACTC	GRCh37
NC_000020.9:g.49834808_49834809insACTC	NCBI36
NG_008000.1:g.22647_22648insGAGT , LRG_675:g.22647_22648insGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217086.9:c.2743-179_2743-178insGAGT MANE Select	ENSP00000217086.4:n.2743-179_2743-178insGAGT
ENST00000217086.8:c.2743-179_2743-178insGAGT	ENSP00000217086.4:n.2743-179_2743-178insGAGT
ENST00000371539.7:c.412-179_412-178insGAGT	ENSP00000360594.3:n.412-179_412-178insGAGT
ENST00000395997.3:c.1432-179_1432-178insGAGT	ENSP00000379319.3:n.1432-179_1432-178insGAGT
NM_020436.3:c.2743-179_2743-178insGAGT , LRG_675t1:c.2743-179_2743-178insGAGT	NP_065169.1:n.2743-179_2743-178insGAGT
XM_005260467.2:c.2437-179_2437-178insGAGT	XP_005260524.1:n.2437-179_2437-178insGAGT
XM_006723834.2:c.2437-179_2437-178insGAGT	XP_006723897.1:n.2437-179_2437-178insGAGT
XM_011528919.1:c.2617-179_2617-178insGAGT	XP_011527221.1:n.2617-179_2617-178insGAGT
XM_011528920.1:c.2437-179_2437-178insGAGT	XP_011527222.1:n.2437-179_2437-178insGAGT
XM_011528921.1:c.2437-179_2437-178insGAGT	XP_011527223.1:n.2437-179_2437-178insGAGT
XM_011528922.1:c.2437-179_2437-178insGAGT	XP_011527224.1:n.2437-179_2437-178insGAGT
XM_011528923.1:c.1432-179_1432-178insGAGT	XP_011527225.1:n.1432-179_1432-178insGAGT
NM_001318031.1:c.1432-179_1432-178insGAGT	NP_001304960.1:n.1432-179_1432-178insGAGT
NM_020436.4:c.2743-179_2743-178insGAGT	NP_065169.1:n.2743-179_2743-178insGAGT
XM_005260467.4:c.2437-179_2437-178insGAGT	XP_005260524.1:n.2437-179_2437-178insGAGT
XM_011528921.2:c.2437-179_2437-178insGAGT	XP_011527223.1:n.2437-179_2437-178insGAGT
XM_011528922.2:c.2437-179_2437-178insGAGT	XP_011527224.1:n.2437-179_2437-178insGAGT
NM_020436.5:c.2743-179_2743-178insGAGT MANE Select	NP_065169.1:n.2743-179_2743-178insGAGT
NM_001318031.2:c.1432-179_1432-178insGAGT	NP_001304960.1:n.1432-179_1432-178insGAGT