Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105428_11105440delinsAGATGGCTCGGAT , CM000681.2:g.11105428_11105440delinsAGATGGCTCGGAT	GRCh38
NC_000019.9:g.11216104_11216116delinsAGATGGCTCGGAT , CM000681.1:g.11216104_11216116delinsAGATGGCTCGGAT	GRCh37
NC_000019.8:g.11077104_11077116delinsAGATGGCTCGGAT	NCBI36
NG_009060.1:g.21048_21060delinsAGATGGCTCGGAT , LRG_274:g.21048_21060delinsAGATGGCTCGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.780_792delinsAGATGGCTCGGAT	ENSP00000252444.6:p.Glu260=
ENST00000559340.2:c.522_534delinsAGATGGCTCGGAT	ENSP00000453696.2:p.Glu174=
ENST00000560467.2:c.522_534delinsAGATGGCTCGGAT	ENSP00000453513.2:p.Glu174=
ENST00000558518.6:c.522_534delinsAGATGGCTCGGAT MANE Select	ENSP00000454071.1:p.Glu174=
ENST00000252444.9:c.776_788delinsAGATGGCTCGGAT
ENST00000455727.6:c.314-1964_314-1952delinsAGATGGCTCGGAT	ENSP00000397829.2:n.314-1964_314-1952delinsAGATGGCTCGGAT
ENST00000535915.5:c.399_411delinsAGATGGCTCGGAT	ENSP00000440520.1:p.Glu133=
ENST00000545707.5:c.314-1137_314-1125delinsAGATGGCTCGGAT	ENSP00000437639.1:n.314-1137_314-1125delinsAGATGGCTCGGAT
ENST00000557933.5:c.522_534delinsAGATGGCTCGGAT	ENSP00000453557.1:p.Glu174=
ENST00000558013.5:c.522_534delinsAGATGGCTCGGAT	ENSP00000453346.1:p.Glu174=
ENST00000558518.5:c.522_534delinsAGATGGCTCGGAT	ENSP00000454071.1:p.Glu174=
ENST00000560467.1:c.122_134delinsAGATGGCTCGGAT
NM_000527.4:c.522_534delinsAGATGGCTCGGAT , LRG_274t1:c.522_534delinsAGATGGCTCGGAT	NP_000518.1:p.Glu174=
NM_001195798.1:c.522_534delinsAGATGGCTCGGAT	NP_001182727.1:p.Glu174=
NM_001195799.1:c.399_411delinsAGATGGCTCGGAT	NP_001182728.1:p.Glu133=
NM_001195800.1:c.314-1964_314-1952delinsAGATGGCTCGGAT	NP_001182729.1:n.314-1964_314-1952delinsAGATGGCTCGGAT
NM_001195803.1:c.314-1137_314-1125delinsAGATGGCTCGGAT	NP_001182732.1:n.314-1137_314-1125delinsAGATGGCTCGGAT
XM_011528010.1:c.522_534delinsAGATGGCTCGGAT	XP_011526312.1:p.Glu174=
XM_011528011.1:c.314-1137_314-1125delinsAGATGGCTCGGAT	XP_011526313.1:n.314-1137_314-1125delinsAGATGGCTCGGAT
XR_244074.2:n.672_684delinsAGATGGCTCGGAT
XM_011528010.2:c.522_534delinsAGATGGCTCGGAT	XP_011526312.1:p.Glu174=
XR_001753685.2:n.639_651delinsAGATGGCTCGGAT
XR_001753686.2:n.639_651delinsAGATGGCTCGGAT
NM_000527.5:c.522_534delinsAGATGGCTCGGAT MANE Select	NP_000518.1:p.Glu174=
NM_001195798.2:c.522_534delinsAGATGGCTCGGAT	NP_001182727.1:p.Glu174=
NM_001195799.2:c.399_411delinsAGATGGCTCGGAT	NP_001182728.1:p.Glu133=
NM_001195800.2:c.314-1964_314-1952delinsAGATGGCTCGGAT	NP_001182729.1:n.314-1964_314-1952delinsAGATGGCTCGGAT
NM_001195803.2:c.314-1137_314-1125delinsAGATGGCTCGGAT	NP_001182732.1:n.314-1137_314-1125delinsAGATGGCTCGGAT