Canonical Allele Identifier: CA916081221

Gene: LDLR

Linked Data

• ClinVar Variation Id: 835547
• ClinVar RCV Id: RCV001036449
• dbSNP Id: rs2077417709

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113623del , CM000681.2:g.11113623del	GRCh38
NC_000019.9:g.11224299del , CM000681.1:g.11224299del	GRCh37
NC_000019.8:g.11085299del	NCBI36
NG_009060.1:g.29243del , LRG_274:g.29243del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1705del	ENSP00000252444.6:p.Trp569GlyfsTer24
ENST00000559340.2:c.1447del	ENSP00000453696.2:p.Trp483GlyfsTer24
ENST00000560467.2:c.1327del	ENSP00000453513.2:p.Trp443GlyfsTer24
ENST00000558518.6:c.1447del MANE Select	ENSP00000454071.1:p.Trp483GlyfsTer24
ENST00000252444.9:c.1701del
ENST00000455727.6:c.943del	ENSP00000397829.2:p.Trp315GlyfsTer24
ENST00000535915.5:c.1324del	ENSP00000440520.1:p.Trp442GlyfsTer24
ENST00000545707.5:c.1066del	ENSP00000437639.1:p.Trp356GlyfsTer24
ENST00000557933.5:c.1447del	ENSP00000453557.1:p.Trp483GlyfsTer24
ENST00000558013.5:c.1447del	ENSP00000453346.1:p.Trp483GlyfsTer24
ENST00000558518.5:c.1447del	ENSP00000454071.1:p.Trp483GlyfsTer24
ENST00000559340.1:c.168del
ENST00000560467.1:c.927del
NM_000527.4:c.1447del , LRG_274t1:c.1447del	NP_000518.1:p.Trp483GlyfsTer24
NM_001195798.1:c.1447del	NP_001182727.1:p.Trp483GlyfsTer24
NM_001195799.1:c.1324del	NP_001182728.1:p.Trp442GlyfsTer24
NM_001195800.1:c.943del	NP_001182729.1:p.Trp315GlyfsTer24
NM_001195803.1:c.1066del	NP_001182732.1:p.Trp356GlyfsTer24
XM_011528010.1:c.1447del	XP_011526312.1:p.Trp483GlyfsTer24
XM_011528011.1:c.1066del	XP_011526313.1:p.Trp356GlyfsTer24
XR_244074.2:n.1597del
XM_011528010.2:c.1447del	XP_011526312.1:p.Trp483GlyfsTer24
XR_001753685.2:n.1564del
XR_001753686.2:n.1564del
NM_000527.5:c.1447del MANE Select	NP_000518.1:p.Trp483GlyfsTer24
NM_001195798.2:c.1447del	NP_001182727.1:p.Trp483GlyfsTer24
NM_001195799.2:c.1324del	NP_001182728.1:p.Trp442GlyfsTer24
NM_001195800.2:c.943del	NP_001182729.1:p.Trp315GlyfsTer24
NM_001195803.2:c.1066del	NP_001182732.1:p.Trp356GlyfsTer24