Canonical Allele Identifier: CA2573050584

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11106161_11107857del , CM000681.2:g.11106161_11107857del	GRCh38
NC_000019.9:g.11216837_11218533del , CM000681.1:g.11216837_11218533del	GRCh37
NC_000019.8:g.11077837_11079533del	NCBI36
NG_009060.1:g.21781_23477del , LRG_274:g.21781_23477del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.953-404_1198+343del
ENST00000559340.2:c.695-404_940+343del
ENST00000560467.2:c.695-404_940+343del
ENST00000558518.6:c.695-404_940+343del
ENST00000252444.9:c.949-404_1194+343del
ENST00000455727.6:c.314-1231_436+343del
ENST00000535915.5:c.572-404_817+343del
ENST00000545707.5:c.314-404_559+343del
ENST00000557933.5:c.695-404_940+343del
ENST00000558013.5:c.695-404_940+343del
ENST00000558518.5:c.695-404_940+343del
ENST00000560467.1:c.295-404_540+343del
NM_000527.4:c.695-404_940+343del , LRG_274t1:c.695-404_940+343del
NM_001195798.1:c.695-404_940+343del
NM_001195799.1:c.572-404_817+343del
NM_001195800.1:c.314-1231_436+343del
NM_001195803.1:c.314-404_559+343del
XM_011528010.1:c.695-404_940+343del
XM_011528011.1:c.314-404_559+343del
XR_244074.2:n.845-404_1090+343del
XM_011528010.2:c.695-404_940+343del
XR_001753685.2:n.812-404_1057+343del
XR_001753686.2:n.812-404_1057+343del
NM_000527.5:c.695-404_940+343del
NM_001195798.2:c.695-404_940+343del
NM_001195799.2:c.572-404_817+343del
NM_001195800.2:c.314-1231_436+343del
NM_001195803.2:c.314-404_559+343del