Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105585_11105586insCGGTATGGACT , CM000681.2:g.11105585_11105586insCGGTATGGACT	GRCh38
NC_000019.9:g.11216261_11216262insCGGTATGGACT , CM000681.1:g.11216261_11216262insCGGTATGGACT	GRCh37
NC_000019.8:g.11077261_11077262insCGGTATGGACT	NCBI36
NG_009060.1:g.21205_21206insCGGTATGGACT , LRG_274:g.21205_21206insCGGTATGGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.937_938insCGGTATGGACT	ENSP00000252444.6:p.Asp313AlafsTer?
ENST00000559340.2:c.679_680insCGGTATGGACT	ENSP00000453696.2:p.Asp227AlafsTer?
ENST00000560467.2:c.679_680insCGGTATGGACT	ENSP00000453513.2:p.Asp227AlafsTer?
ENST00000558518.6:c.679_680insCGGTATGGACT MANE Select	ENSP00000454071.1:p.Asp227AlafsTer?
ENST00000252444.9:c.933_934insCGGTATGGACT
ENST00000455727.6:c.314-1807_314-1806insCGGTATGGACT	ENSP00000397829.2:n.314-1807_314-1806insCGGTATGGACT
ENST00000535915.5:c.556_557insCGGTATGGACT	ENSP00000440520.1:p.Asp186AlafsTer?
ENST00000545707.5:c.314-980_314-979insCGGTATGGACT	ENSP00000437639.1:n.314-980_314-979insCGGTATGGACT
ENST00000557933.5:c.679_680insCGGTATGGACT	ENSP00000453557.1:p.Asp227AlafsTer?
ENST00000558013.5:c.679_680insCGGTATGGACT	ENSP00000453346.1:p.Asp227AlafsTer?
ENST00000558518.5:c.679_680insCGGTATGGACT	ENSP00000454071.1:p.Asp227AlafsTer?
ENST00000560467.1:c.279_280insCGGTATGGACT
NM_000527.4:c.679_680insCGGTATGGACT , LRG_274t1:c.679_680insCGGTATGGACT	NP_000518.1:p.Asp227AlafsTer?
NM_001195798.1:c.679_680insCGGTATGGACT	NP_001182727.1:p.Asp227AlafsTer?
NM_001195799.1:c.556_557insCGGTATGGACT	NP_001182728.1:p.Asp186AlafsTer?
NM_001195800.1:c.314-1807_314-1806insCGGTATGGACT	NP_001182729.1:n.314-1807_314-1806insCGGTATGGACT
NM_001195803.1:c.314-980_314-979insCGGTATGGACT	NP_001182732.1:n.314-980_314-979insCGGTATGGACT
XM_011528010.1:c.679_680insCGGTATGGACT	XP_011526312.1:p.Asp227AlafsTer?
XM_011528011.1:c.314-980_314-979insCGGTATGGACT	XP_011526313.1:n.314-980_314-979insCGGTATGGACT
XR_244074.2:n.829_830insCGGTATGGACT
XM_011528010.2:c.679_680insCGGTATGGACT	XP_011526312.1:p.Asp227AlafsTer?
XR_001753685.2:n.796_797insCGGTATGGACT
XR_001753686.2:n.796_797insCGGTATGGACT
NM_000527.5:c.679_680insCGGTATGGACT MANE Select	NP_000518.1:p.Asp227AlafsTer?
NM_001195798.2:c.679_680insCGGTATGGACT	NP_001182727.1:p.Asp227AlafsTer?
NM_001195799.2:c.556_557insCGGTATGGACT	NP_001182728.1:p.Asp186AlafsTer?
NM_001195800.2:c.314-1807_314-1806insCGGTATGGACT	NP_001182729.1:n.314-1807_314-1806insCGGTATGGACT
NM_001195803.2:c.314-980_314-979insCGGTATGGACT	NP_001182732.1:n.314-980_314-979insCGGTATGGACT