Canonical Allele Identifier: CA2322770819

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111667_11111668delinsGC , CM000681.2:g.11111667_11111668delinsGC	GRCh38
NC_000019.9:g.11222343_11222344delinsGC , CM000681.1:g.11222343_11222344delinsGC	GRCh37
NC_000019.8:g.11083343_11083344delinsGC	NCBI36
NG_009060.1:g.27287_27288delinsGC , LRG_274:g.27287_27288delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1444+28_1444+29delinsGC	ENSP00000252444.6:n.1444+28_1444+29delinsGC
ENST00000559340.2:c.1186+28_1186+29delinsGC	ENSP00000453696.2:n.1186+28_1186+29delinsGC
ENST00000560467.2:c.1066+28_1066+29delinsGC	ENSP00000453513.2:n.1066+28_1066+29delinsGC
ENST00000558518.6:c.1186+28_1186+29delinsGC MANE Select	ENSP00000454071.1:n.1186+28_1186+29delinsGC
ENST00000252444.9:c.1440+28_1440+29delinsGC
ENST00000455727.6:c.682+28_682+29delinsGC	ENSP00000397829.2:n.682+28_682+29delinsGC
ENST00000535915.5:c.1063+28_1063+29delinsGC	ENSP00000440520.1:n.1063+28_1063+29delinsGC
ENST00000545707.5:c.805+28_805+29delinsGC	ENSP00000437639.1:n.805+28_805+29delinsGC
ENST00000557933.5:c.1186+28_1186+29delinsGC	ENSP00000453557.1:n.1186+28_1186+29delinsGC
ENST00000558013.5:c.1186+28_1186+29delinsGC	ENSP00000453346.1:n.1186+28_1186+29delinsGC
ENST00000558518.5:c.1186+28_1186+29delinsGC	ENSP00000454071.1:n.1186+28_1186+29delinsGC
ENST00000560173.1:n.185+28_185+29delinsGC
ENST00000560467.1:c.666+28_666+29delinsGC
NM_000527.4:c.1186+28_1186+29delinsGC , LRG_274t1:c.1186+28_1186+29delinsGC	NP_000518.1:n.1186+28_1186+29delinsGC
NM_001195798.1:c.1186+28_1186+29delinsGC	NP_001182727.1:n.1186+28_1186+29delinsGC
NM_001195799.1:c.1063+28_1063+29delinsGC	NP_001182728.1:n.1063+28_1063+29delinsGC
NM_001195800.1:c.682+28_682+29delinsGC	NP_001182729.1:n.682+28_682+29delinsGC
NM_001195803.1:c.805+28_805+29delinsGC	NP_001182732.1:n.805+28_805+29delinsGC
XM_011528010.1:c.1186+28_1186+29delinsGC	XP_011526312.1:n.1186+28_1186+29delinsGC
XM_011528011.1:c.805+28_805+29delinsGC	XP_011526313.1:n.805+28_805+29delinsGC
XR_244074.2:n.1336+28_1336+29delinsGC
XM_011528010.2:c.1186+28_1186+29delinsGC	XP_011526312.1:n.1186+28_1186+29delinsGC
XR_001753685.2:n.1303+28_1303+29delinsGC
XR_001753686.2:n.1303+28_1303+29delinsGC
NM_000527.5:c.1186+28_1186+29delinsGC MANE Select	NP_000518.1:n.1186+28_1186+29delinsGC
NM_001195798.2:c.1186+28_1186+29delinsGC	NP_001182727.1:n.1186+28_1186+29delinsGC
NM_001195799.2:c.1063+28_1063+29delinsGC	NP_001182728.1:n.1063+28_1063+29delinsGC
NM_001195800.2:c.682+28_682+29delinsGC	NP_001182729.1:n.682+28_682+29delinsGC
NM_001195803.2:c.805+28_805+29delinsGC	NP_001182732.1:n.805+28_805+29delinsGC