Canonical Allele Identifier: CA2573050567

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11104109_11109216del , CM000681.2:g.11104109_11109216del	GRCh38
NC_000019.9:g.11214785_11219892del , CM000681.1:g.11214785_11219892del	GRCh37
NC_000019.8:g.11075785_11080892del	NCBI36
NG_009060.1:g.19729_24836del , LRG_274:g.19729_24836del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.572-1111_1199-1436del
ENST00000559340.2:c.314-1111_941-1436del
ENST00000560467.2:c.314-1111_940+1702del
ENST00000558518.6:c.314-1111_941-1436del
ENST00000252444.9:c.568-1111_1195-1436del
ENST00000455727.6:c.313+1323_437-1436del
ENST00000535915.5:c.191-1111_818-1436del
ENST00000545707.5:c.313+1323_560-1436del
ENST00000557933.5:c.314-1111_941-1436del
ENST00000558013.5:c.314-1111_941-1436del
ENST00000558518.5:c.314-1111_941-1436del
NM_000527.4:c.314-1111_941-1436del , LRG_274t1:c.314-1111_941-1436del
NM_001195798.1:c.314-1111_941-1436del
NM_001195799.1:c.191-1111_818-1436del
NM_001195800.1:c.313+1323_437-1436del
NM_001195803.1:c.313+1323_560-1436del
XM_011528010.1:c.314-1111_941-1436del
XM_011528011.1:c.313+1323_560-1436del
XR_244074.2:n.464-1111_1091-1436del
XM_011528010.2:c.314-1111_941-1436del
XR_001753685.2:n.431-1111_1058-1436del
XR_001753686.2:n.431-1111_1058-1436del
NM_000527.5:c.314-1111_941-1436del
NM_001195798.2:c.314-1111_941-1436del
NM_001195799.2:c.191-1111_818-1436del
NM_001195800.2:c.313+1323_437-1436del
NM_001195803.2:c.313+1323_560-1436del