Canonical Allele Identifier: CA658658781

Gene: LDLR

Linked Data

• ClinVar Variation Id: 456652
• ClinVar RCV Id: RCV000776109 ; RCV000543887 ; RCV000614040 ; RCV002420356
• dbSNP Id: rs1555808091
• ERepo: CA658658781/MONDO:0007750/013

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123264_11123265delinsAG , CM000681.2:g.11123264_11123265delinsAG	GRCh38
NC_000019.9:g.11233940_11233941delinsAG , CM000681.1:g.11233940_11233941delinsAG	GRCh37
NC_000019.8:g.11094940_11094941delinsAG	NCBI36
NG_009060.1:g.38884_38885delinsAG , LRG_274:g.38884_38885delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2489_2490delinsAG	ENSP00000252444.6:p.Arg830Gln
ENST00000559340.2:c.*300_*301delinsAG	ENSP00000453696.2:n.*300_*301delinsAG
ENST00000560467.2:c.2111_2112delinsAG	ENSP00000453513.2:p.Arg704Gln
ENST00000558518.6:c.2231_2232delinsAG MANE Select	ENSP00000454071.1:p.Arg744Gln
ENST00000252444.9:c.2485_2486delinsAG
ENST00000455727.6:c.1727_1728delinsAG	ENSP00000397829.2:p.Arg576Gln
ENST00000535915.5:c.2108_2109delinsAG	ENSP00000440520.1:p.Arg703Gln
ENST00000545707.5:c.1697_1698delinsAG	ENSP00000437639.1:p.Arg566Gln
ENST00000557933.5:c.2231_2232delinsAG	ENSP00000453557.1:p.Arg744Gln
ENST00000558013.5:c.2231_2232delinsAG	ENSP00000453346.1:p.Arg744Gln
ENST00000558518.5:c.2231_2232delinsAG	ENSP00000454071.1:p.Arg744Gln
NM_000527.4:c.2231_2232delinsAG , LRG_274t1:c.2231_2232delinsAG	NP_000518.1:p.Arg744Gln
NM_001195798.1:c.2231_2232delinsAG	NP_001182727.1:p.Arg744Gln
NM_001195799.1:c.2108_2109delinsAG	NP_001182728.1:p.Arg703Gln
NM_001195800.1:c.1727_1728delinsAG	NP_001182729.1:p.Arg576Gln
NM_001195803.1:c.1697_1698delinsAG	NP_001182732.1:p.Arg566Gln
XM_011528010.1:c.2231_2232delinsAG	XP_011526312.1:p.Arg744Gln
XM_011528011.1:c.1850_1851delinsAG	XP_011526313.1:p.Arg617Gln
XR_244074.2:n.2241_2242delinsAG
XM_011528010.2:c.2231_2232delinsAG	XP_011526312.1:p.Arg744Gln
XR_001753685.2:n.2565_2566delinsAG
XR_001753686.2:n.2208_2209delinsAG
NM_000527.5:c.2231_2232delinsAG MANE Select	NP_000518.1:p.Arg744Gln
NM_001195798.2:c.2231_2232delinsAG	NP_001182727.1:p.Arg744Gln
NM_001195799.2:c.2108_2109delinsAG	NP_001182728.1:p.Arg703Gln
NM_001195800.2:c.1727_1728delinsAG	NP_001182729.1:p.Arg576Gln
NM_001195803.2:c.1697_1698delinsAG	NP_001182732.1:p.Arg566Gln