Canonical Allele Identifier: CA916081220

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11100225_11102665del , CM000681.2:g.11100225_11102665del	GRCh38
NC_000019.9:g.11210901_11213341del , CM000681.1:g.11210901_11213341del	GRCh37
NC_000019.8:g.11071901_11074341del	NCBI36
NG_009060.1:g.15845_18285del , LRG_274:g.15845_18285del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.328_450del
ENST00000559340.2:c.70_192del
ENST00000560467.2:c.70_192del
ENST00000558518.6:c.70_192del
ENST00000252444.9:c.324_446del
ENST00000455727.6:c.70_192del
ENST00000535915.5:c.70_190+2320del
ENST00000545707.5:c.70_192del
ENST00000557933.5:c.70_192del
ENST00000557958.1:n.156_278del
ENST00000558013.5:c.70_192del
ENST00000558518.5:c.70_192del
NM_000527.4:c.70_192del , LRG_274t1:c.70_192del
NM_001195798.1:c.70_192del
NM_001195799.1:c.70_190+2320del
NM_001195800.1:c.70_192del
NM_001195803.1:c.70_192del
XM_011528010.1:c.70_192del
XM_011528011.1:c.70_192del
XR_244074.2:n.220_342del
XM_011528010.2:c.70_192del
XR_001753685.2:n.187_309del
XR_001753686.2:n.187_309del
NM_000527.5:c.70_192del
NM_001195798.2:c.70_192del
NM_001195799.2:c.70_190+2320del
NM_001195800.2:c.70_192del
NM_001195803.2:c.70_192del