Canonical Allele Identifier: CA2322773227

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116088_11116125delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG , CM000681.2:g.11116088_11116125delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG	GRCh38
NC_000019.9:g.11226764_11226801delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG , CM000681.1:g.11226764_11226801delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG	GRCh37
NC_000019.8:g.11087764_11087801delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG	NCBI36
NG_009060.1:g.31708_31745delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG , LRG_274:g.31708_31745delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1845-6_1876delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
ENST00000559340.2:c.1587-6_1618delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
ENST00000560467.2:c.1467-6_1498delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
ENST00000558518.6:c.1587-6_1618delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
ENST00000252444.9:c.1841-6_1872delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
ENST00000455727.6:c.1083-6_1114delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
ENST00000535915.5:c.1464-6_1495delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
ENST00000545707.5:c.1206-6_1237delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
ENST00000557933.5:c.1587-6_1618delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
ENST00000558013.5:c.1587-6_1618delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
ENST00000558518.5:c.1587-6_1618delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
ENST00000559340.1:c.308-6_339delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
NM_000527.4:c.1587-6_1618delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG , LRG_274t1:c.1587-6_1618delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
NM_001195798.1:c.1587-6_1618delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
NM_001195799.1:c.1464-6_1495delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
NM_001195800.1:c.1083-6_1114delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
NM_001195803.1:c.1206-6_1237delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
XM_011528010.1:c.1587-6_1618delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
XM_011528011.1:c.1206-6_1237delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
XR_244074.2:n.1737-6_1768delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
XM_011528010.2:c.1587-6_1618delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
XR_001753685.2:n.1704-6_1735delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
XR_001753686.2:n.1704-6_1735delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
NM_000527.5:c.1587-6_1618delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
NM_001195798.2:c.1587-6_1618delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
NM_001195799.2:c.1464-6_1495delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
NM_001195800.2:c.1083-6_1114delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG
NM_001195803.2:c.1206-6_1237delinsCACCAGCTTCATGTACTGGACTGACTGGGGAACTCCCG