Canonical Allele Identifier: CA2322768129

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106539_11106544delinsTCAACA , CM000681.2:g.11106539_11106544delinsTCAACA	GRCh38
NC_000019.9:g.11217215_11217220delinsTCAACA , CM000681.1:g.11217215_11217220delinsTCAACA	GRCh37
NC_000019.8:g.11078215_11078220delinsTCAACA	NCBI36
NG_009060.1:g.22159_22164delinsTCAACA , LRG_274:g.22159_22164delinsTCAACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.953-26_953-21delinsTCAACA	ENSP00000252444.6:n.953-26_953-21delinsTC...
ENST00000559340.2:c.695-26_695-21delinsTCAACA	ENSP00000453696.2:n.695-26_695-21delinsTC...
ENST00000560467.2:c.695-26_695-21delinsTCAACA	ENSP00000453513.2:n.695-26_695-21delinsTC...
ENST00000558518.6:c.695-26_695-21delinsTCAACA MANE Select	ENSP00000454071.1:n.695-26_695-21delinsTC...
ENST00000252444.9:c.949-26_949-21delinsTCAACA
ENST00000455727.6:c.314-853_314-848delinsTCAACA	ENSP00000397829.2:n.314-853_314-848delins...
ENST00000535915.5:c.572-26_572-21delinsTCAACA	ENSP00000440520.1:n.572-26_572-21delinsTC...
ENST00000545707.5:c.314-26_314-21delinsTCAACA	ENSP00000437639.1:n.314-26_314-21delinsTC...
ENST00000557933.5:c.695-26_695-21delinsTCAACA	ENSP00000453557.1:n.695-26_695-21delinsTC...
ENST00000558013.5:c.695-26_695-21delinsTCAACA	ENSP00000453346.1:n.695-26_695-21delinsTC...
ENST00000558518.5:c.695-26_695-21delinsTCAACA	ENSP00000454071.1:n.695-26_695-21delinsTC...
ENST00000558528.1:n.184_189delinsTCAACA
ENST00000560467.1:c.295-26_295-21delinsTCAACA
NM_000527.4:c.695-26_695-21delinsTCAACA , LRG_274t1:c.695-26_695-21delinsTCAACA	NP_000518.1:n.695-26_695-21delinsTCAACA
NM_001195798.1:c.695-26_695-21delinsTCAACA	NP_001182727.1:n.695-26_695-21delinsTCAAC...
NM_001195799.1:c.572-26_572-21delinsTCAACA	NP_001182728.1:n.572-26_572-21delinsTCAAC...
NM_001195800.1:c.314-853_314-848delinsTCAACA	NP_001182729.1:n.314-853_314-848delinsTCA...
NM_001195803.1:c.314-26_314-21delinsTCAACA	NP_001182732.1:n.314-26_314-21delinsTCAAC...
XM_011528010.1:c.695-26_695-21delinsTCAACA	XP_011526312.1:n.695-26_695-21delinsTCAAC...
XM_011528011.1:c.314-26_314-21delinsTCAACA	XP_011526313.1:n.314-26_314-21delinsTCAAC...
XR_244074.2:n.845-26_845-21delinsTCAACA
XM_011528010.2:c.695-26_695-21delinsTCAACA	XP_011526312.1:n.695-26_695-21delinsTCAAC...
XR_001753685.2:n.812-26_812-21delinsTCAACA
XR_001753686.2:n.812-26_812-21delinsTCAACA
NM_000527.5:c.695-26_695-21delinsTCAACA MANE Select	NP_000518.1:n.695-26_695-21delinsTCAACA
NM_001195798.2:c.695-26_695-21delinsTCAACA	NP_001182727.1:n.695-26_695-21delinsTCAAC...
NM_001195799.2:c.572-26_572-21delinsTCAACA	NP_001182728.1:n.572-26_572-21delinsTCAAC...
NM_001195800.2:c.314-853_314-848delinsTCAACA	NP_001182729.1:n.314-853_314-848delinsTCA...
NM_001195803.2:c.314-26_314-21delinsTCAACA	NP_001182732.1:n.314-26_314-21delinsTCAAC...