Canonical Allele Identifier: CA2573050605

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11114751_11118984del , CM000681.2:g.11114751_11118984del	GRCh38
NC_000019.9:g.11225427_11229660del , CM000681.1:g.11225427_11229660del	GRCh37
NC_000019.8:g.11086427_11090660del	NCBI36
NG_009060.1:g.30371_34604del , LRG_274:g.30371_34604del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1844+989_2104-1108del
ENST00000559340.2:c.1586+989_1706-1108del
ENST00000560467.2:c.1466+989_1726-1108del
ENST00000558518.6:c.1586+989_1846-1108del
ENST00000252444.9:c.1840+989_2100-1108del
ENST00000455727.6:c.1082+989_1342-1108del
ENST00000535915.5:c.1463+989_1723-1108del
ENST00000545707.5:c.1205+989_1465-1108del
ENST00000557933.5:c.1586+989_1846-1108del
ENST00000558013.5:c.1586+989_1846-1108del
ENST00000558518.5:c.1586+989_1846-1108del
ENST00000559340.1:c.307+989_427-1108del
NM_000527.4:c.1586+989_1846-1108del , LRG_274t1:c.1586+989_1846-1108del
NM_001195798.1:c.1586+989_1846-1108del
NM_001195799.1:c.1463+989_1723-1108del
NM_001195800.1:c.1082+989_1342-1108del
NM_001195803.1:c.1205+989_1465-1108del
XM_011528010.1:c.1586+989_1846-1108del
XM_011528011.1:c.1205+989_1465-1108del
XR_244074.2:n.1736+989_1856-1108del
XM_011528010.2:c.1586+989_1846-1108del
XR_001753685.2:n.1703+989_1963-1108del
XR_001753686.2:n.1703+989_1823-1108del
NM_000527.5:c.1586+989_1846-1108del
NM_001195798.2:c.1586+989_1846-1108del
NM_001195799.2:c.1463+989_1723-1108del
NM_001195800.2:c.1082+989_1342-1108del
NM_001195803.2:c.1205+989_1465-1108del