Canonical Allele Identifier: CA2322766176

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11103003_11103005delinsGCA , CM000681.2:g.11103003_11103005delinsGCA	GRCh38
NC_000019.9:g.11213679_11213681delinsGCA , CM000681.1:g.11213679_11213681delinsGCA	GRCh37
NC_000019.8:g.11074679_11074681delinsGCA	NCBI36
NG_009060.1:g.18623_18625delinsGCA , LRG_274:g.18623_18625delinsGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.571+217_571+219delinsGCA	ENSP00000252444.6:n.571+217_571+219delinsGCA
ENST00000559340.2:c.313+217_313+219delinsGCA	ENSP00000453696.2:n.313+217_313+219delinsGCA
ENST00000560467.2:c.313+217_313+219delinsGCA	ENSP00000453513.2:n.313+217_313+219delinsGCA
ENST00000558518.6:c.313+217_313+219delinsGCA MANE Select	ENSP00000454071.1:n.313+217_313+219delinsGCA
ENST00000252444.9:c.567+217_567+219delinsGCA
ENST00000455727.6:c.313+217_313+219delinsGCA	ENSP00000397829.2:n.313+217_313+219delinsGCA
ENST00000535915.5:c.191-2217_191-2215delinsGCA	ENSP00000440520.1:n.191-2217_191-2215delinsGCA
ENST00000545707.5:c.313+217_313+219delinsGCA	ENSP00000437639.1:n.313+217_313+219delinsGCA
ENST00000557933.5:c.313+217_313+219delinsGCA	ENSP00000453557.1:n.313+217_313+219delinsGCA
ENST00000557958.1:n.616_618delinsGCA
ENST00000558013.5:c.313+217_313+219delinsGCA	ENSP00000453346.1:n.313+217_313+219delinsGCA
ENST00000558518.5:c.313+217_313+219delinsGCA	ENSP00000454071.1:n.313+217_313+219delinsGCA
NM_000527.4:c.313+217_313+219delinsGCA , LRG_274t1:c.313+217_313+219delinsGCA	NP_000518.1:n.313+217_313+219delinsGCA
NM_001195798.1:c.313+217_313+219delinsGCA	NP_001182727.1:n.313+217_313+219delinsGCA
NM_001195799.1:c.191-2217_191-2215delinsGCA	NP_001182728.1:n.191-2217_191-2215delinsGCA
NM_001195800.1:c.313+217_313+219delinsGCA	NP_001182729.1:n.313+217_313+219delinsGCA
NM_001195803.1:c.313+217_313+219delinsGCA	NP_001182732.1:n.313+217_313+219delinsGCA
XM_011528010.1:c.313+217_313+219delinsGCA	XP_011526312.1:n.313+217_313+219delinsGCA
XM_011528011.1:c.313+217_313+219delinsGCA	XP_011526313.1:n.313+217_313+219delinsGCA
XR_244074.2:n.463+217_463+219delinsGCA
XM_011528010.2:c.313+217_313+219delinsGCA	XP_011526312.1:n.313+217_313+219delinsGCA
XR_001753685.2:n.430+217_430+219delinsGCA
XR_001753686.2:n.430+217_430+219delinsGCA
NM_000527.5:c.313+217_313+219delinsGCA MANE Select	NP_000518.1:n.313+217_313+219delinsGCA
NM_001195798.2:c.313+217_313+219delinsGCA	NP_001182727.1:n.313+217_313+219delinsGCA
NM_001195799.2:c.191-2217_191-2215delinsGCA	NP_001182728.1:n.191-2217_191-2215delinsGCA
NM_001195800.2:c.313+217_313+219delinsGCA	NP_001182729.1:n.313+217_313+219delinsGCA
NM_001195803.2:c.313+217_313+219delinsGCA	NP_001182732.1:n.313+217_313+219delinsGCA