Canonical Allele Identifier: CA2322767268

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105219_11105220delinsGC , CM000681.2:g.11105219_11105220delinsGC	GRCh38
NC_000019.9:g.11215895_11215896delinsGC , CM000681.1:g.11215895_11215896delinsGC	GRCh37
NC_000019.8:g.11076895_11076896delinsGC	NCBI36
NG_009060.1:g.20839_20840delinsGC , LRG_274:g.20839_20840delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.572-1_572delinsGC
ENST00000559340.2:c.314-1_314delinsGC
ENST00000560467.2:c.314-1_314delinsGC
ENST00000558518.6:c.314-1_314delinsGC
ENST00000252444.9:c.568-1_568delinsGC
ENST00000455727.6:c.314-2173_314-2172delinsGC	ENSP00000397829.2:n.314-2173_314-2172delinsGC
ENST00000535915.5:c.191-1_191delinsGC
ENST00000545707.5:c.314-1346_314-1345delinsGC	ENSP00000437639.1:n.314-1346_314-1345delinsGC
ENST00000557933.5:c.314-1_314delinsGC
ENST00000558013.5:c.314-1_314delinsGC
ENST00000558518.5:c.314-1_314delinsGC
NM_000527.4:c.314-1_314delinsGC , LRG_274t1:c.314-1_314delinsGC
NM_001195798.1:c.314-1_314delinsGC
NM_001195799.1:c.191-1_191delinsGC
NM_001195800.1:c.314-2173_314-2172delinsGC	NP_001182729.1:n.314-2173_314-2172delinsGC
NM_001195803.1:c.314-1346_314-1345delinsGC	NP_001182732.1:n.314-1346_314-1345delinsGC
XM_011528010.1:c.314-1_314delinsGC
XM_011528011.1:c.314-1346_314-1345delinsGC	XP_011526313.1:n.314-1346_314-1345delinsGC
XR_244074.2:n.464-1_464delinsGC
XM_011528010.2:c.314-1_314delinsGC
XR_001753685.2:n.431-1_431delinsGC
XR_001753686.2:n.431-1_431delinsGC
NM_000527.5:c.314-1_314delinsGC
NM_001195798.2:c.314-1_314delinsGC
NM_001195799.2:c.191-1_191delinsGC
NM_001195800.2:c.314-2173_314-2172delinsGC	NP_001182729.1:n.314-2173_314-2172delinsGC
NM_001195803.2:c.314-1346_314-1345delinsGC	NP_001182732.1:n.314-1346_314-1345delinsGC