Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105243_11105259delinsGAGTTTCGCTGCCACGA , CM000681.2:g.11105243_11105259delinsGAGTTTCGCTGCCACGA	GRCh38
NC_000019.9:g.11215919_11215935delinsGAGTTTCGCTGCCACGA , CM000681.1:g.11215919_11215935delinsGAGTTTCGCTGCCACGA	GRCh37
NC_000019.8:g.11076919_11076935delinsGAGTTTCGCTGCCACGA	NCBI36
NG_009060.1:g.20863_20879delinsGAGTTTCGCTGCCACGA , LRG_274:g.20863_20879delinsGAGTTTCGCTGCCACGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.595_611delinsGAGTTTCGCTGCCACGA	ENSP00000252444.6:p.Glu199=
ENST00000559340.2:c.337_353delinsGAGTTTCGCTGCCACGA	ENSP00000453696.2:p.Glu113=
ENST00000560467.2:c.337_353delinsGAGTTTCGCTGCCACGA	ENSP00000453513.2:p.Glu113=
ENST00000558518.6:c.337_353delinsGAGTTTCGCTGCCACGA MANE Select	ENSP00000454071.1:p.Glu113=
ENST00000252444.9:c.591_607delinsGAGTTTCGCTGCCACGA
ENST00000455727.6:c.314-2149_314-2133delinsGAGTTTCGCTGCCACGA	ENSP00000397829.2:n.314-2149_314-2133delinsGAGTTTCGCTGCCACGA
ENST00000535915.5:c.214_230delinsGAGTTTCGCTGCCACGA	ENSP00000440520.1:p.Glu72=
ENST00000545707.5:c.314-1322_314-1306delinsGAGTTTCGCTGCCACGA	ENSP00000437639.1:n.314-1322_314-1306delinsGAGTTTCGCTGCCACGA
ENST00000557933.5:c.337_353delinsGAGTTTCGCTGCCACGA	ENSP00000453557.1:p.Glu113=
ENST00000558013.5:c.337_353delinsGAGTTTCGCTGCCACGA	ENSP00000453346.1:p.Glu113=
ENST00000558518.5:c.337_353delinsGAGTTTCGCTGCCACGA	ENSP00000454071.1:p.Glu113=
NM_000527.4:c.337_353delinsGAGTTTCGCTGCCACGA , LRG_274t1:c.337_353delinsGAGTTTCGCTGCCACGA	NP_000518.1:p.Glu113=
NM_001195798.1:c.337_353delinsGAGTTTCGCTGCCACGA	NP_001182727.1:p.Glu113=
NM_001195799.1:c.214_230delinsGAGTTTCGCTGCCACGA	NP_001182728.1:p.Glu72=
NM_001195800.1:c.314-2149_314-2133delinsGAGTTTCGCTGCCACGA	NP_001182729.1:n.314-2149_314-2133delinsGAGTTTCGCTGCCACGA
NM_001195803.1:c.314-1322_314-1306delinsGAGTTTCGCTGCCACGA	NP_001182732.1:n.314-1322_314-1306delinsGAGTTTCGCTGCCACGA
XM_011528010.1:c.337_353delinsGAGTTTCGCTGCCACGA	XP_011526312.1:p.Glu113=
XM_011528011.1:c.314-1322_314-1306delinsGAGTTTCGCTGCCACGA	XP_011526313.1:n.314-1322_314-1306delinsGAGTTTCGCTGCCACGA
XR_244074.2:n.487_503delinsGAGTTTCGCTGCCACGA
XM_011528010.2:c.337_353delinsGAGTTTCGCTGCCACGA	XP_011526312.1:p.Glu113=
XR_001753685.2:n.454_470delinsGAGTTTCGCTGCCACGA
XR_001753686.2:n.454_470delinsGAGTTTCGCTGCCACGA
NM_000527.5:c.337_353delinsGAGTTTCGCTGCCACGA MANE Select	NP_000518.1:p.Glu113=
NM_001195798.2:c.337_353delinsGAGTTTCGCTGCCACGA	NP_001182727.1:p.Glu113=
NM_001195799.2:c.214_230delinsGAGTTTCGCTGCCACGA	NP_001182728.1:p.Glu72=
NM_001195800.2:c.314-2149_314-2133delinsGAGTTTCGCTGCCACGA	NP_001182729.1:n.314-2149_314-2133delinsGAGTTTCGCTGCCACGA
NM_001195803.2:c.314-1322_314-1306delinsGAGTTTCGCTGCCACGA	NP_001182732.1:n.314-1322_314-1306delinsGAGTTTCGCTGCCACGA