Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105569_11105570insCCCGC , CM000681.2:g.11105569_11105570insCCCGC	GRCh38
NC_000019.9:g.11216245_11216246insCCCGC , CM000681.1:g.11216245_11216246insCCCGC	GRCh37
NC_000019.8:g.11077245_11077246insCCCGC	NCBI36
NG_009060.1:g.21189_21190insCCCGC , LRG_274:g.21189_21190insCCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.921_922insCCCGC	ENSP00000252444.6:p.Cys308ProfsTer?
ENST00000559340.2:c.663_664insCCCGC	ENSP00000453696.2:p.Cys222ProfsTer?
ENST00000560467.2:c.663_664insCCCGC	ENSP00000453513.2:p.Cys222ProfsTer?
ENST00000558518.6:c.663_664insCCCGC MANE Select	ENSP00000454071.1:p.Cys222ProfsTer?
ENST00000252444.9:c.917_918insCCCGC
ENST00000455727.6:c.314-1823_314-1822insCCCGC	ENSP00000397829.2:n.314-1823_314-1822insCCCGC
ENST00000535915.5:c.540_541insCCCGC	ENSP00000440520.1:p.Cys181ProfsTer?
ENST00000545707.5:c.314-996_314-995insCCCGC	ENSP00000437639.1:n.314-996_314-995insCCCGC
ENST00000557933.5:c.663_664insCCCGC	ENSP00000453557.1:p.Cys222ProfsTer?
ENST00000558013.5:c.663_664insCCCGC	ENSP00000453346.1:p.Cys222ProfsTer?
ENST00000558518.5:c.663_664insCCCGC	ENSP00000454071.1:p.Cys222ProfsTer?
ENST00000560467.1:c.263_264insCCCGC
NM_000527.4:c.663_664insCCCGC , LRG_274t1:c.663_664insCCCGC	NP_000518.1:p.Cys222ProfsTer?
NM_001195798.1:c.663_664insCCCGC	NP_001182727.1:p.Cys222ProfsTer?
NM_001195799.1:c.540_541insCCCGC	NP_001182728.1:p.Cys181ProfsTer?
NM_001195800.1:c.314-1823_314-1822insCCCGC	NP_001182729.1:n.314-1823_314-1822insCCCGC
NM_001195803.1:c.314-996_314-995insCCCGC	NP_001182732.1:n.314-996_314-995insCCCGC
XM_011528010.1:c.663_664insCCCGC	XP_011526312.1:p.Cys222ProfsTer?
XM_011528011.1:c.314-996_314-995insCCCGC	XP_011526313.1:n.314-996_314-995insCCCGC
XR_244074.2:n.813_814insCCCGC
XM_011528010.2:c.663_664insCCCGC	XP_011526312.1:p.Cys222ProfsTer?
XR_001753685.2:n.780_781insCCCGC
XR_001753686.2:n.780_781insCCCGC
NM_000527.5:c.663_664insCCCGC MANE Select	NP_000518.1:p.Cys222ProfsTer?
NM_001195798.2:c.663_664insCCCGC	NP_001182727.1:p.Cys222ProfsTer?
NM_001195799.2:c.540_541insCCCGC	NP_001182728.1:p.Cys181ProfsTer?
NM_001195800.2:c.314-1823_314-1822insCCCGC	NP_001182729.1:n.314-1823_314-1822insCCCGC
NM_001195803.2:c.314-996_314-995insCCCGC	NP_001182732.1:n.314-996_314-995insCCCGC