Canonical Allele Identifier: CA645373223

Gene: LDLR

Linked Data

• ClinVar Variation Id: 430754
• ClinVar RCV Id: RCV000495933
• dbSNP Id: rs1555803259

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105348_11105410delinsA , CM000681.2:g.11105348_11105410delinsA	GRCh38
NC_000019.9:g.11216024_11216086delinsA , CM000681.1:g.11216024_11216086delinsA	GRCh37
NC_000019.8:g.11077024_11077086delinsA	NCBI36
NG_009060.1:g.20968_21030delinsA , LRG_274:g.20968_21030delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.700_762delinsA	ENSP00000252444.6:p.Cys234LysfsTer11
ENST00000559340.2:c.442_504delinsA	ENSP00000453696.2:p.Cys148LysfsTer11
ENST00000560467.2:c.442_504delinsA	ENSP00000453513.2:p.Cys148LysfsTer11
ENST00000558518.6:c.442_504delinsA MANE Select	ENSP00000454071.1:p.Cys148LysfsTer11
ENST00000252444.9:c.696_758delinsA
ENST00000455727.6:c.314-2044_314-1982delinsA	ENSP00000397829.2:n.314-2044_314-1982delinsA
ENST00000535915.5:c.319_381delinsA	ENSP00000440520.1:p.Cys107LysfsTer11
ENST00000545707.5:c.314-1217_314-1155delinsA	ENSP00000437639.1:n.314-1217_314-1155delinsA
ENST00000557933.5:c.442_504delinsA	ENSP00000453557.1:p.Cys148LysfsTer11
ENST00000558013.5:c.442_504delinsA	ENSP00000453346.1:p.Cys148LysfsTer11
ENST00000558518.5:c.442_504delinsA	ENSP00000454071.1:p.Cys148LysfsTer11
ENST00000560467.1:c.42_104delinsA
NM_000527.4:c.442_504delinsA , LRG_274t1:c.442_504delinsA	NP_000518.1:p.Cys148LysfsTer11
NM_001195798.1:c.442_504delinsA	NP_001182727.1:p.Cys148LysfsTer11
NM_001195799.1:c.319_381delinsA	NP_001182728.1:p.Cys107LysfsTer11
NM_001195800.1:c.314-2044_314-1982delinsA	NP_001182729.1:n.314-2044_314-1982delinsA
NM_001195803.1:c.314-1217_314-1155delinsA	NP_001182732.1:n.314-1217_314-1155delinsA
XM_011528010.1:c.442_504delinsA	XP_011526312.1:p.Cys148LysfsTer11
XM_011528011.1:c.314-1217_314-1155delinsA	XP_011526313.1:n.314-1217_314-1155delinsA
XR_244074.2:n.592_654delinsA
XM_011528010.2:c.442_504delinsA	XP_011526312.1:p.Cys148LysfsTer11
XR_001753685.2:n.559_621delinsA
XR_001753686.2:n.559_621delinsA
NM_000527.5:c.442_504delinsA MANE Select	NP_000518.1:p.Cys148LysfsTer11
NM_001195798.2:c.442_504delinsA	NP_001182727.1:p.Cys148LysfsTer11
NM_001195799.2:c.319_381delinsA	NP_001182728.1:p.Cys107LysfsTer11
NM_001195800.2:c.314-2044_314-1982delinsA	NP_001182729.1:n.314-2044_314-1982delinsA
NM_001195803.2:c.314-1217_314-1155delinsA	NP_001182732.1:n.314-1217_314-1155delinsA