Canonical Allele Identifier: CA16602340

Gene: LDLR

Linked Data

• ClinVar Variation Id: 375826
• ClinVar RCV Id: RCV000417358
• dbSNP Id: rs1057519679
• MyVariant Identifiers: chr19:g.11230902_11230905del (hg19) ; chr19:g.11120226_11120229del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120226_11120229del , CM000681.2:g.11120226_11120229del	GRCh38
NC_000019.9:g.11230902_11230905del , CM000681.1:g.11230902_11230905del	GRCh37
NC_000019.8:g.11091902_11091905del	NCBI36
NG_009060.1:g.35846_35849del , LRG_274:g.35846_35849del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2238_2241del	ENSP00000252444.6:p.Pro747GlufsTer3
ENST00000559340.2:c.*49_*52del	ENSP00000453696.2:n.*49_*52del
ENST00000560467.2:c.1860_1863del	ENSP00000453513.2:p.Pro621GlufsTer3
ENST00000558518.6:c.1980_1983del MANE Select	ENSP00000454071.1:p.Pro661GlufsTer3
ENST00000252444.9:c.2234_2237del
ENST00000455727.6:c.1476_1479del	ENSP00000397829.2:p.Pro493GlufsTer3
ENST00000535915.5:c.1857_1860del	ENSP00000440520.1:p.Pro620GlufsTer3
ENST00000545707.5:c.1599_1602del	ENSP00000437639.1:p.Pro534GlufsTer17
ENST00000557933.5:c.1980_1983del	ENSP00000453557.1:p.Pro661GlufsTer3
ENST00000558013.5:c.1980_1983del	ENSP00000453346.1:p.Pro661GlufsTer3
ENST00000558518.5:c.1980_1983del	ENSP00000454071.1:p.Pro661GlufsTer3
ENST00000559340.1:c.561_564del
NM_000527.4:c.1980_1983del , LRG_274t1:c.1980_1983del	NP_000518.1:p.Pro661GlufsTer3
NM_001195798.1:c.1980_1983del	NP_001182727.1:p.Pro661GlufsTer3
NM_001195799.1:c.1857_1860del	NP_001182728.1:p.Pro620GlufsTer3
NM_001195800.1:c.1476_1479del	NP_001182729.1:p.Pro493GlufsTer3
NM_001195803.1:c.1599_1602del	NP_001182732.1:p.Pro534GlufsTer17
XM_011528010.1:c.1980_1983del	XP_011526312.1:p.Pro661GlufsTer3
XM_011528011.1:c.1599_1602del	XP_011526313.1:p.Pro534GlufsTer3
XR_244074.2:n.1990_1993del
XM_011528010.2:c.1980_1983del	XP_011526312.1:p.Pro661GlufsTer3
XR_001753685.2:n.2097_2100del
XR_001753686.2:n.1957_1960del
NM_000527.5:c.1980_1983del MANE Select	NP_000518.1:p.Pro661GlufsTer3
NM_001195798.2:c.1980_1983del	NP_001182727.1:p.Pro661GlufsTer3
NM_001195799.2:c.1857_1860del	NP_001182728.1:p.Pro620GlufsTer3
NM_001195800.2:c.1476_1479del	NP_001182729.1:p.Pro493GlufsTer3
NM_001195803.2:c.1599_1602del	NP_001182732.1:p.Pro534GlufsTer17