Canonical Allele Identifier: CA2580096408

Gene: LDLR

Linked Data

• ClinVar Variation Id: 1737803
• ClinVar RCV Id: RCV002323293

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11111617del , CM000681.2:g.11111617del	GRCh38
NC_000019.9:g.11222293del , CM000681.1:g.11222293del	GRCh37
NC_000019.8:g.11083293del	NCBI36
NG_009060.1:g.27237del , LRG_274:g.27237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1422del	ENSP00000252444.6:p.His474GlnfsTer25
ENST00000559340.2:c.1164del	ENSP00000453696.2:p.His388GlnfsTer25
ENST00000560467.2:c.1044del	ENSP00000453513.2:p.His348GlnfsTer25
ENST00000558518.6:c.1164del MANE Select	ENSP00000454071.1:p.His388GlnfsTer25
ENST00000252444.9:c.1418del
ENST00000455727.6:c.660del	ENSP00000397829.2:p.His220GlnfsTer25
ENST00000535915.5:c.1041del	ENSP00000440520.1:p.His347GlnfsTer25
ENST00000545707.5:c.783del	ENSP00000437639.1:p.His261GlnfsTer25
ENST00000557933.5:c.1164del	ENSP00000453557.1:p.His388GlnfsTer25
ENST00000558013.5:c.1164del	ENSP00000453346.1:p.His388GlnfsTer25
ENST00000558518.5:c.1164del	ENSP00000454071.1:p.His388GlnfsTer25
ENST00000560173.1:n.163del
ENST00000560467.1:c.644del
NM_000527.4:c.1164del , LRG_274t1:c.1164del	NP_000518.1:p.His388GlnfsTer25
NM_001195798.1:c.1164del	NP_001182727.1:p.His388GlnfsTer25
NM_001195799.1:c.1041del	NP_001182728.1:p.His347GlnfsTer25
NM_001195800.1:c.660del	NP_001182729.1:p.His220GlnfsTer25
NM_001195803.1:c.783del	NP_001182732.1:p.His261GlnfsTer25
XM_011528010.1:c.1164del	XP_011526312.1:p.His388GlnfsTer25
XM_011528011.1:c.783del	XP_011526313.1:p.His261GlnfsTer25
XR_244074.2:n.1314del
XM_011528010.2:c.1164del	XP_011526312.1:p.His388GlnfsTer25
XR_001753685.2:n.1281del
XR_001753686.2:n.1281del
NM_000527.5:c.1164del MANE Select	NP_000518.1:p.His388GlnfsTer25
NM_001195798.2:c.1164del	NP_001182727.1:p.His388GlnfsTer25
NM_001195799.2:c.1041del	NP_001182728.1:p.His347GlnfsTer25
NM_001195800.2:c.660del	NP_001182729.1:p.His220GlnfsTer25
NM_001195803.2:c.783del	NP_001182732.1:p.His261GlnfsTer25