Canonical Allele Identifier: CA2695238678

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105568_11105575del , CM000681.2:g.11105568_11105575del	GRCh38
NC_000019.9:g.11216244_11216251del , CM000681.1:g.11216244_11216251del	GRCh37
NC_000019.8:g.11077244_11077251del	NCBI36
NG_009060.1:g.21188_21195del , LRG_274:g.21188_21195del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.920_927del	ENSP00000252444.6:p.Asp307GlyfsTer4
ENST00000559340.2:c.662_669del	ENSP00000453696.2:p.Asp221GlyfsTer4
ENST00000560467.2:c.662_669del	ENSP00000453513.2:p.Asp221GlyfsTer4
ENST00000558518.6:c.662_669del MANE Select	ENSP00000454071.1:p.Asp221GlyfsTer4
ENST00000252444.9:c.916_923del
ENST00000455727.6:c.314-1824_314-1817del	ENSP00000397829.2:n.314-1824_314-1817del
ENST00000535915.5:c.539_546del	ENSP00000440520.1:p.Asp180GlyfsTer4
ENST00000545707.5:c.314-997_314-990del	ENSP00000437639.1:n.314-997_314-990del
ENST00000557933.5:c.662_669del	ENSP00000453557.1:p.Asp221GlyfsTer4
ENST00000558013.5:c.662_669del	ENSP00000453346.1:p.Asp221GlyfsTer4
ENST00000558518.5:c.662_669del	ENSP00000454071.1:p.Asp221GlyfsTer4
ENST00000560467.1:c.262_269del
NM_000527.4:c.662_669del , LRG_274t1:c.662_669del	NP_000518.1:p.Asp221GlyfsTer4
NM_001195798.1:c.662_669del	NP_001182727.1:p.Asp221GlyfsTer4
NM_001195799.1:c.539_546del	NP_001182728.1:p.Asp180GlyfsTer4
NM_001195800.1:c.314-1824_314-1817del	NP_001182729.1:n.314-1824_314-1817del
NM_001195803.1:c.314-997_314-990del	NP_001182732.1:n.314-997_314-990del
XM_011528010.1:c.662_669del	XP_011526312.1:p.Asp221GlyfsTer4
XM_011528011.1:c.314-997_314-990del	XP_011526313.1:n.314-997_314-990del
XR_244074.2:n.812_819del
XM_011528010.2:c.662_669del	XP_011526312.1:p.Asp221GlyfsTer4
XR_001753685.2:n.779_786del
XR_001753686.2:n.779_786del
NM_000527.5:c.662_669del MANE Select	NP_000518.1:p.Asp221GlyfsTer4
NM_001195798.2:c.662_669del	NP_001182727.1:p.Asp221GlyfsTer4
NM_001195799.2:c.539_546del	NP_001182728.1:p.Asp180GlyfsTer4
NM_001195800.2:c.314-1824_314-1817del	NP_001182729.1:n.314-1824_314-1817del
NM_001195803.2:c.314-997_314-990del	NP_001182732.1:n.314-997_314-990del