Canonical Allele Identifier: CA10584790

Gene: LDLR

Linked Data

• ClinVar Variation Id: 251073
• ClinVar RCV Id: RCV000237852
• dbSNP Id: rs1555802710
• MyVariant Identifiers: chr19:g.11213344_11213345insA (hg19) ; chr19:g.11102668_11102669insA (hg38)
• PubMed: PMID:24373485

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11102668_11102669insA , CM000681.2:g.11102668_11102669insA	GRCh38
NC_000019.9:g.11213344_11213345insA , CM000681.1:g.11213344_11213345insA	GRCh37
NC_000019.8:g.11074344_11074345insA	NCBI36
NG_009060.1:g.18288_18289insA , LRG_274:g.18288_18289insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.453_454insA	ENSP00000252444.6:p.Val152SerfsTer?
ENST00000559340.2:c.195_196insA	ENSP00000453696.2:p.Val66SerfsTer?
ENST00000560467.2:c.195_196insA	ENSP00000453513.2:p.Val66SerfsTer?
ENST00000558518.6:c.195_196insA MANE Select	ENSP00000454071.1:p.Val66SerfsTer?
ENST00000252444.9:c.449_450insA
ENST00000455727.6:c.195_196insA	ENSP00000397829.2:p.Val66SerfsTer?
ENST00000535915.5:c.190+2323_190+2324insA	ENSP00000440520.1:n.190+2323_190+2324insA...
ENST00000545707.5:c.195_196insA	ENSP00000437639.1:p.Val66SerfsTer?
ENST00000557933.5:c.195_196insA	ENSP00000453557.1:p.Val66SerfsTer?
ENST00000557958.1:n.281_282insA
ENST00000558013.5:c.195_196insA	ENSP00000453346.1:p.Val66SerfsTer?
ENST00000558518.5:c.195_196insA	ENSP00000454071.1:p.Val66SerfsTer?
NM_000527.4:c.195_196insA , LRG_274t1:c.195_196insA	NP_000518.1:p.Val66SerfsTer?
NM_001195798.1:c.195_196insA	NP_001182727.1:p.Val66SerfsTer?
NM_001195799.1:c.190+2323_190+2324insA	NP_001182728.1:n.190+2323_190+2324insA
NM_001195800.1:c.195_196insA	NP_001182729.1:p.Val66SerfsTer?
NM_001195803.1:c.195_196insA	NP_001182732.1:p.Val66SerfsTer?
XM_011528010.1:c.195_196insA	XP_011526312.1:p.Val66SerfsTer?
XM_011528011.1:c.195_196insA	XP_011526313.1:p.Val66SerfsTer?
XR_244074.2:n.345_346insA
XM_011528010.2:c.195_196insA	XP_011526312.1:p.Val66SerfsTer?
XR_001753685.2:n.312_313insA
XR_001753686.2:n.312_313insA
NM_000527.5:c.195_196insA MANE Select	NP_000518.1:p.Val66SerfsTer?
NM_001195798.2:c.195_196insA	NP_001182727.1:p.Val66SerfsTer?
NM_001195799.2:c.190+2323_190+2324insA	NP_001182728.1:n.190+2323_190+2324insA
NM_001195800.2:c.195_196insA	NP_001182729.1:p.Val66SerfsTer?
NM_001195803.2:c.195_196insA	NP_001182732.1:p.Val66SerfsTer?