Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111567_11111576delinsGAGGGTGGCT , CM000681.2:g.11111567_11111576delinsGAGGGTGGCT	GRCh38
NC_000019.9:g.11222243_11222252delinsGAGGGTGGCT , CM000681.1:g.11222243_11222252delinsGAGGGTGGCT	GRCh37
NC_000019.8:g.11083243_11083252delinsGAGGGTGGCT	NCBI36
NG_009060.1:g.27187_27196delinsGAGGGTGGCT , LRG_274:g.27187_27196delinsGAGGGTGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1372_1381delinsGAGGGTGGCT	ENSP00000252444.6:p.Glu458=
ENST00000559340.2:c.1114_1123delinsGAGGGTGGCT	ENSP00000453696.2:p.Glu372=
ENST00000560467.2:c.994_1003delinsGAGGGTGGCT	ENSP00000453513.2:p.Glu332=
ENST00000558518.6:c.1114_1123delinsGAGGGTGGCT MANE Select	ENSP00000454071.1:p.Glu372=
ENST00000252444.9:c.1368_1377delinsGAGGGTGGCT
ENST00000455727.6:c.610_619delinsGAGGGTGGCT	ENSP00000397829.2:p.Glu204=
ENST00000535915.5:c.991_1000delinsGAGGGTGGCT	ENSP00000440520.1:p.Glu331=
ENST00000545707.5:c.733_742delinsGAGGGTGGCT	ENSP00000437639.1:p.Glu245=
ENST00000557933.5:c.1114_1123delinsGAGGGTGGCT	ENSP00000453557.1:p.Glu372=
ENST00000558013.5:c.1114_1123delinsGAGGGTGGCT	ENSP00000453346.1:p.Glu372=
ENST00000558518.5:c.1114_1123delinsGAGGGTGGCT	ENSP00000454071.1:p.Glu372=
ENST00000560173.1:n.113_122delinsGAGGGTGGCT
ENST00000560467.1:c.594_603delinsGAGGGTGGCT
NM_000527.4:c.1114_1123delinsGAGGGTGGCT , LRG_274t1:c.1114_1123delinsGAGGGTGGCT	NP_000518.1:p.Glu372=
NM_001195798.1:c.1114_1123delinsGAGGGTGGCT	NP_001182727.1:p.Glu372=
NM_001195799.1:c.991_1000delinsGAGGGTGGCT	NP_001182728.1:p.Glu331=
NM_001195800.1:c.610_619delinsGAGGGTGGCT	NP_001182729.1:p.Glu204=
NM_001195803.1:c.733_742delinsGAGGGTGGCT	NP_001182732.1:p.Glu245=
XM_011528010.1:c.1114_1123delinsGAGGGTGGCT	XP_011526312.1:p.Glu372=
XM_011528011.1:c.733_742delinsGAGGGTGGCT	XP_011526313.1:p.Glu245=
XR_244074.2:n.1264_1273delinsGAGGGTGGCT
XM_011528010.2:c.1114_1123delinsGAGGGTGGCT	XP_011526312.1:p.Glu372=
XR_001753685.2:n.1231_1240delinsGAGGGTGGCT
XR_001753686.2:n.1231_1240delinsGAGGGTGGCT
NM_000527.5:c.1114_1123delinsGAGGGTGGCT MANE Select	NP_000518.1:p.Glu372=
NM_001195798.2:c.1114_1123delinsGAGGGTGGCT	NP_001182727.1:p.Glu372=
NM_001195799.2:c.991_1000delinsGAGGGTGGCT	NP_001182728.1:p.Glu331=
NM_001195800.2:c.610_619delinsGAGGGTGGCT	NP_001182729.1:p.Glu204=
NM_001195803.2:c.733_742delinsGAGGGTGGCT	NP_001182732.1:p.Glu245=