Canonical Allele Identifier: CA2322773233

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116093_11116098delinsGCTTCA , CM000681.2:g.11116093_11116098delinsGCTTCA	GRCh38
NC_000019.9:g.11226769_11226774delinsGCTTCA , CM000681.1:g.11226769_11226774delinsGCTTCA	GRCh37
NC_000019.8:g.11087769_11087774delinsGCTTCA	NCBI36
NG_009060.1:g.31713_31718delinsGCTTCA , LRG_274:g.31713_31718delinsGCTTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1845-1_1849delinsGCTTCA
ENST00000559340.2:c.1587-1_1591delinsGCTTCA
ENST00000560467.2:c.1467-1_1471delinsGCTTCA
ENST00000558518.6:c.1587-1_1591delinsGCTTCA
ENST00000252444.9:c.1841-1_1845delinsGCTTCA
ENST00000455727.6:c.1083-1_1087delinsGCTTCA
ENST00000535915.5:c.1464-1_1468delinsGCTTCA
ENST00000545707.5:c.1206-1_1210delinsGCTTCA
ENST00000557933.5:c.1587-1_1591delinsGCTTCA
ENST00000558013.5:c.1587-1_1591delinsGCTTCA
ENST00000558518.5:c.1587-1_1591delinsGCTTCA
ENST00000559340.1:c.308-1_312delinsGCTTCA
NM_000527.4:c.1587-1_1591delinsGCTTCA , LRG_274t1:c.1587-1_1591delinsGCTTCA
NM_001195798.1:c.1587-1_1591delinsGCTTCA
NM_001195799.1:c.1464-1_1468delinsGCTTCA
NM_001195800.1:c.1083-1_1087delinsGCTTCA
NM_001195803.1:c.1206-1_1210delinsGCTTCA
XM_011528010.1:c.1587-1_1591delinsGCTTCA
XM_011528011.1:c.1206-1_1210delinsGCTTCA
XR_244074.2:n.1737-1_1741delinsGCTTCA
XM_011528010.2:c.1587-1_1591delinsGCTTCA
XR_001753685.2:n.1704-1_1708delinsGCTTCA
XR_001753686.2:n.1704-1_1708delinsGCTTCA
NM_000527.5:c.1587-1_1591delinsGCTTCA
NM_001195798.2:c.1587-1_1591delinsGCTTCA
NM_001195799.2:c.1464-1_1468delinsGCTTCA
NM_001195800.2:c.1083-1_1087delinsGCTTCA
NM_001195803.2:c.1206-1_1210delinsGCTTCA