Canonical Allele Identifier: CA916084172

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102785_11107393del , CM000681.2:g.11102785_11107393del	GRCh38
NC_000019.9:g.11213461_11218069del , CM000681.1:g.11213461_11218069del	GRCh37
NC_000019.8:g.11074461_11079069del	NCBI36
NG_009060.1:g.18405_23013del , LRG_274:g.18405_23013del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.570_1077del
ENST00000559340.2:c.312_819del
ENST00000560467.2:c.312_819del
ENST00000558518.6:c.312_819del
ENST00000252444.9:c.566_1073del
ENST00000455727.6:c.312_315del
ENST00000535915.5:c.191-2435_696del
ENST00000545707.5:c.312_438del
ENST00000557933.5:c.312_819del
ENST00000558013.5:c.312_819del
ENST00000558518.5:c.312_819del
NM_000527.4:c.312_819del , LRG_274t1:c.312_819del
NM_001195798.1:c.312_819del
NM_001195799.1:c.191-2435_696del
NM_001195800.1:c.312_315del
NM_001195803.1:c.312_438del
XM_011528010.1:c.312_819del
XM_011528011.1:c.312_438del
XR_244074.2:n.462_969del
XM_011528010.2:c.312_819del
XR_001753685.2:n.429_936del
XR_001753686.2:n.429_936del
NM_000527.5:c.312_819del
NM_001195798.2:c.312_819del
NM_001195799.2:c.191-2435_696del
NM_001195800.2:c.312_315del
NM_001195803.2:c.312_438del