Canonical Allele Identifier: CA2322760811

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11091518_11091519delinsGC , CM000681.2:g.11091518_11091519delinsGC	GRCh38
NC_000019.9:g.11202194_11202195delinsGC , CM000681.1:g.11202194_11202195delinsGC	GRCh37
NC_000019.8:g.11063194_11063195delinsGC	NCBI36
NG_009060.1:g.7138_7139delinsGC , LRG_274:g.7138_7139delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.325+599_325+600delinsGC	ENSP00000252444.6:n.325+599_325+600delinsGC
ENST00000559340.2:c.67+1903_67+1904delinsGC	ENSP00000453696.2:n.67+1903_67+1904delinsGC
ENST00000560467.2:c.67+1903_67+1904delinsGC	ENSP00000453513.2:n.67+1903_67+1904delinsGC
ENST00000558518.6:c.67+1903_67+1904delinsGC MANE Select	ENSP00000454071.1:n.67+1903_67+1904delinsGC
ENST00000252444.9:c.321+599_321+600delinsGC
ENST00000455727.6:c.67+1903_67+1904delinsGC	ENSP00000397829.2:n.67+1903_67+1904delinsGC
ENST00000535915.5:c.67+1903_67+1904delinsGC	ENSP00000440520.1:n.67+1903_67+1904delinsGC
ENST00000545707.5:c.67+1903_67+1904delinsGC	ENSP00000437639.1:n.67+1903_67+1904delinsGC
ENST00000557933.5:c.67+1903_67+1904delinsGC	ENSP00000453557.1:n.67+1903_67+1904delinsGC
ENST00000557958.1:n.153+1903_153+1904delinsGC
ENST00000558013.5:c.67+1903_67+1904delinsGC	ENSP00000453346.1:n.67+1903_67+1904delinsGC
ENST00000558518.5:c.67+1903_67+1904delinsGC	ENSP00000454071.1:n.67+1903_67+1904delinsGC
ENST00000560502.5:n.153+1903_153+1904delinsGC
NM_000527.4:c.67+1903_67+1904delinsGC , LRG_274t1:c.67+1903_67+1904delinsGC	NP_000518.1:n.67+1903_67+1904delinsGC
NM_001195798.1:c.67+1903_67+1904delinsGC	NP_001182727.1:n.67+1903_67+1904delinsGC
NM_001195799.1:c.67+1903_67+1904delinsGC	NP_001182728.1:n.67+1903_67+1904delinsGC
NM_001195800.1:c.67+1903_67+1904delinsGC	NP_001182729.1:n.67+1903_67+1904delinsGC
NM_001195803.1:c.67+1903_67+1904delinsGC	NP_001182732.1:n.67+1903_67+1904delinsGC
XM_011528010.1:c.67+1903_67+1904delinsGC	XP_011526312.1:n.67+1903_67+1904delinsGC
XM_011528011.1:c.67+1903_67+1904delinsGC	XP_011526313.1:n.67+1903_67+1904delinsGC
XR_244074.2:n.217+1903_217+1904delinsGC
XM_011528010.2:c.67+1903_67+1904delinsGC	XP_011526312.1:n.67+1903_67+1904delinsGC
XR_001753685.2:n.184+1903_184+1904delinsGC
XR_001753686.2:n.184+1903_184+1904delinsGC
NM_000527.5:c.67+1903_67+1904delinsGC MANE Select	NP_000518.1:n.67+1903_67+1904delinsGC
NM_001195798.2:c.67+1903_67+1904delinsGC	NP_001182727.1:n.67+1903_67+1904delinsGC
NM_001195799.2:c.67+1903_67+1904delinsGC	NP_001182728.1:n.67+1903_67+1904delinsGC
NM_001195800.2:c.67+1903_67+1904delinsGC	NP_001182729.1:n.67+1903_67+1904delinsGC
NM_001195803.2:c.67+1903_67+1904delinsGC	NP_001182732.1:n.67+1903_67+1904delinsGC