Canonical Allele Identifier: CA10584745

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251008
• ClinVar RCV Id: RCV000237187
• dbSNP Id: rs879254400
• MyVariant Identifiers: chr19:g.11210908_11210909del (hg19) ; chr19:g.11100232_11100233del (hg38)
• PubMed: PMID:11005141

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11100232_11100233del , CM000681.2:g.11100232_11100233del	GRCh38
NC_000019.9:g.11210908_11210909del , CM000681.1:g.11210908_11210909del	GRCh37
NC_000019.8:g.11071908_11071909del	NCBI36
NG_009060.1:g.15852_15853del , LRG_274:g.15852_15853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.335_336del	ENSP00000252444.6:p.Arg112MetfsTer25
ENST00000559340.2:c.77_78del	ENSP00000453696.2:p.Arg26MetfsTer25
ENST00000560467.2:c.77_78del	ENSP00000453513.2:p.Arg26MetfsTer25
ENST00000558518.6:c.77_78del MANE Select	ENSP00000454071.1:p.Arg26MetfsTer25
ENST00000252444.9:c.331_332del
ENST00000455727.6:c.77_78del	ENSP00000397829.2:p.Arg26MetfsTer25
ENST00000535915.5:c.77_78del	ENSP00000440520.1:p.Arg26MetfsTer25
ENST00000545707.5:c.77_78del	ENSP00000437639.1:p.Arg26MetfsTer25
ENST00000557933.5:c.77_78del	ENSP00000453557.1:p.Arg26MetfsTer25
ENST00000557958.1:n.163_164del
ENST00000558013.5:c.77_78del	ENSP00000453346.1:p.Arg26MetfsTer25
ENST00000558518.5:c.77_78del	ENSP00000454071.1:p.Arg26MetfsTer25
ENST00000560502.5:n.163_164del
NM_000527.4:c.77_78del , LRG_274t1:c.77_78del	NP_000518.1:p.Arg26MetfsTer25
NM_001195798.1:c.77_78del	NP_001182727.1:p.Arg26MetfsTer25
NM_001195799.1:c.77_78del	NP_001182728.1:p.Arg26MetfsTer25
NM_001195800.1:c.77_78del	NP_001182729.1:p.Arg26MetfsTer25
NM_001195803.1:c.77_78del	NP_001182732.1:p.Arg26MetfsTer25
XM_011528010.1:c.77_78del	XP_011526312.1:p.Arg26MetfsTer25
XM_011528011.1:c.77_78del	XP_011526313.1:p.Arg26MetfsTer25
XR_244074.2:n.227_228del
XM_011528010.2:c.77_78del	XP_011526312.1:p.Arg26MetfsTer25
XR_001753685.2:n.194_195del
XR_001753686.2:n.194_195del
NM_000527.5:c.77_78del MANE Select	NP_000518.1:p.Arg26MetfsTer25
NM_001195798.2:c.77_78del	NP_001182727.1:p.Arg26MetfsTer25
NM_001195799.2:c.77_78del	NP_001182728.1:p.Arg26MetfsTer25
NM_001195800.2:c.77_78del	NP_001182729.1:p.Arg26MetfsTer25
NM_001195803.2:c.77_78del	NP_001182732.1:p.Arg26MetfsTer25