Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105578_11105593delinsCAAATCTGACGAGGAA , CM000681.2:g.11105578_11105593delinsCAAATCTGACGAGGAA	GRCh38
NC_000019.9:g.11216254_11216269delinsCAAATCTGACGAGGAA , CM000681.1:g.11216254_11216269delinsCAAATCTGACGAGGAA	GRCh37
NC_000019.8:g.11077254_11077269delinsCAAATCTGACGAGGAA	NCBI36
NG_009060.1:g.21198_21213delinsCAAATCTGACGAGGAA , LRG_274:g.21198_21213delinsCAAATCTGACGAGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.930_945delinsCAAATCTGACGAGGAA	ENSP00000252444.6:p.Asp310=
ENST00000559340.2:c.672_687delinsCAAATCTGACGAGGAA	ENSP00000453696.2:p.Asp224=
ENST00000560467.2:c.672_687delinsCAAATCTGACGAGGAA	ENSP00000453513.2:p.Asp224=
ENST00000558518.6:c.672_687delinsCAAATCTGACGAGGAA MANE Select	ENSP00000454071.1:p.Asp224=
ENST00000252444.9:c.926_941delinsCAAATCTGACGAGGAA
ENST00000455727.6:c.314-1814_314-1799delinsCAAATCTGACGAGGAA	ENSP00000397829.2:n.314-1814_314-1799delinsCAAATCTGACGAGGAA
ENST00000535915.5:c.549_564delinsCAAATCTGACGAGGAA	ENSP00000440520.1:p.Asp183=
ENST00000545707.5:c.314-987_314-972delinsCAAATCTGACGAGGAA	ENSP00000437639.1:n.314-987_314-972delinsCAAATCTGACGAGGAA
ENST00000557933.5:c.672_687delinsCAAATCTGACGAGGAA	ENSP00000453557.1:p.Asp224=
ENST00000558013.5:c.672_687delinsCAAATCTGACGAGGAA	ENSP00000453346.1:p.Asp224=
ENST00000558518.5:c.672_687delinsCAAATCTGACGAGGAA	ENSP00000454071.1:p.Asp224=
ENST00000560467.1:c.272_287delinsCAAATCTGACGAGGAA
NM_000527.4:c.672_687delinsCAAATCTGACGAGGAA , LRG_274t1:c.672_687delinsCAAATCTGACGAGGAA	NP_000518.1:p.Asp224=
NM_001195798.1:c.672_687delinsCAAATCTGACGAGGAA	NP_001182727.1:p.Asp224=
NM_001195799.1:c.549_564delinsCAAATCTGACGAGGAA	NP_001182728.1:p.Asp183=
NM_001195800.1:c.314-1814_314-1799delinsCAAATCTGACGAGGAA	NP_001182729.1:n.314-1814_314-1799delinsCAAATCTGACGAGGAA
NM_001195803.1:c.314-987_314-972delinsCAAATCTGACGAGGAA	NP_001182732.1:n.314-987_314-972delinsCAAATCTGACGAGGAA
XM_011528010.1:c.672_687delinsCAAATCTGACGAGGAA	XP_011526312.1:p.Asp224=
XM_011528011.1:c.314-987_314-972delinsCAAATCTGACGAGGAA	XP_011526313.1:n.314-987_314-972delinsCAAATCTGACGAGGAA
XR_244074.2:n.822_837delinsCAAATCTGACGAGGAA
XM_011528010.2:c.672_687delinsCAAATCTGACGAGGAA	XP_011526312.1:p.Asp224=
XR_001753685.2:n.789_804delinsCAAATCTGACGAGGAA
XR_001753686.2:n.789_804delinsCAAATCTGACGAGGAA
NM_000527.5:c.672_687delinsCAAATCTGACGAGGAA MANE Select	NP_000518.1:p.Asp224=
NM_001195798.2:c.672_687delinsCAAATCTGACGAGGAA	NP_001182727.1:p.Asp224=
NM_001195799.2:c.549_564delinsCAAATCTGACGAGGAA	NP_001182728.1:p.Asp183=
NM_001195800.2:c.314-1814_314-1799delinsCAAATCTGACGAGGAA	NP_001182729.1:n.314-1814_314-1799delinsCAAATCTGACGAGGAA
NM_001195803.2:c.314-987_314-972delinsCAAATCTGACGAGGAA	NP_001182732.1:n.314-987_314-972delinsCAAATCTGACGAGGAA