Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105585_11105588delinsACGGTATGGACTGCA , CM000681.2:g.11105585_11105588delinsACGGTATGGACTGCA	GRCh38
NC_000019.9:g.11216261_11216264delinsACGGTATGGACTGCA , CM000681.1:g.11216261_11216264delinsACGGTATGGACTGCA	GRCh37
NC_000019.8:g.11077261_11077264delinsACGGTATGGACTGCA	NCBI36
NG_009060.1:g.21205_21208delinsACGGTATGGACTGCA , LRG_274:g.21205_21208delinsACGGTATGGACTGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.937_940delinsACGGTATGGACTGCA	ENSP00000252444.6:p.Asp313ThrfsTer?
ENST00000559340.2:c.679_682delinsACGGTATGGACTGCA	ENSP00000453696.2:p.Asp227ThrfsTer?
ENST00000560467.2:c.679_682delinsACGGTATGGACTGCA	ENSP00000453513.2:p.Asp227ThrfsTer?
ENST00000558518.6:c.679_682delinsACGGTATGGACTGCA MANE Select	ENSP00000454071.1:p.Asp227ThrfsTer?
ENST00000252444.9:c.933_936delinsACGGTATGGACTGCA
ENST00000455727.6:c.314-1807_314-1804delinsACGGTATGGACTGCA	ENSP00000397829.2:n.314-1807_314-1804delinsACGGTATGGACTGCA
ENST00000535915.5:c.556_559delinsACGGTATGGACTGCA	ENSP00000440520.1:p.Asp186ThrfsTer?
ENST00000545707.5:c.314-980_314-977delinsACGGTATGGACTGCA	ENSP00000437639.1:n.314-980_314-977delinsACGGTATGGACTGCA
ENST00000557933.5:c.679_682delinsACGGTATGGACTGCA	ENSP00000453557.1:p.Asp227ThrfsTer?
ENST00000558013.5:c.679_682delinsACGGTATGGACTGCA	ENSP00000453346.1:p.Asp227ThrfsTer?
ENST00000558518.5:c.679_682delinsACGGTATGGACTGCA	ENSP00000454071.1:p.Asp227ThrfsTer?
ENST00000560467.1:c.279_282delinsACGGTATGGACTGCA
NM_000527.4:c.679_682delinsACGGTATGGACTGCA , LRG_274t1:c.679_682delinsACGGTATGGACTGCA	NP_000518.1:p.Asp227ThrfsTer?
NM_001195798.1:c.679_682delinsACGGTATGGACTGCA	NP_001182727.1:p.Asp227ThrfsTer?
NM_001195799.1:c.556_559delinsACGGTATGGACTGCA	NP_001182728.1:p.Asp186ThrfsTer?
NM_001195800.1:c.314-1807_314-1804delinsACGGTATGGACTGCA	NP_001182729.1:n.314-1807_314-1804delinsACGGTATGGACTGCA
NM_001195803.1:c.314-980_314-977delinsACGGTATGGACTGCA	NP_001182732.1:n.314-980_314-977delinsACGGTATGGACTGCA
XM_011528010.1:c.679_682delinsACGGTATGGACTGCA	XP_011526312.1:p.Asp227ThrfsTer?
XM_011528011.1:c.314-980_314-977delinsACGGTATGGACTGCA	XP_011526313.1:n.314-980_314-977delinsACGGTATGGACTGCA
XR_244074.2:n.829_832delinsACGGTATGGACTGCA
XM_011528010.2:c.679_682delinsACGGTATGGACTGCA	XP_011526312.1:p.Asp227ThrfsTer?
XR_001753685.2:n.796_799delinsACGGTATGGACTGCA
XR_001753686.2:n.796_799delinsACGGTATGGACTGCA
NM_000527.5:c.679_682delinsACGGTATGGACTGCA MANE Select	NP_000518.1:p.Asp227ThrfsTer?
NM_001195798.2:c.679_682delinsACGGTATGGACTGCA	NP_001182727.1:p.Asp227ThrfsTer?
NM_001195799.2:c.556_559delinsACGGTATGGACTGCA	NP_001182728.1:p.Asp186ThrfsTer?
NM_001195800.2:c.314-1807_314-1804delinsACGGTATGGACTGCA	NP_001182729.1:n.314-1807_314-1804delinsACGGTATGGACTGCA
NM_001195803.2:c.314-980_314-977delinsACGGTATGGACTGCA	NP_001182732.1:n.314-980_314-977delinsACGGTATGGACTGCA