Canonical Allele Identifier: CA2573050624

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11127453_11132598del , CM000681.2:g.11127453_11132598del	GRCh38
NC_000019.9:g.11238129_11243274del , CM000681.1:g.11238129_11243274del	GRCh37
NC_000019.8:g.11099129_11104274del	NCBI36
NG_009060.1:g.43073_48218del , LRG_274:g.43073_48218del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2570-555_*1282del
ENST00000559340.2:c.*381-555_*1934del
ENST00000560467.2:c.2192-555_*1282del
ENST00000558518.6:c.2312-555_*1282del
ENST00000252444.9:c.2566-555_4119del
NM_000527.4:c.2312-555_*1282del , LRG_274t1:c.2312-555_*1282del
NM_001195798.1:c.2312-555_*1282del
NM_001195799.1:c.2189-555_*1282del
NM_001195800.1:c.1808-555_*1282del
NM_001195803.1:c.1778-555_*1282del
XM_011528010.1:c.2312-2060_*1282del
XM_011528011.1:c.1931-555_*1282del
XM_011528010.2:c.2312-2060_*1282del
XR_001753685.2:n.2646-555_4199del
XR_001753686.2:n.2289-555_3842del
NM_000527.5:c.2312-555_*1282del
NM_001195798.2:c.2312-555_*1282del
NM_001195799.2:c.2189-555_*1282del
NM_001195800.2:c.1808-555_*1282del
NM_001195803.2:c.1778-555_*1282del