Canonical Allele Identifier: CA2697556251

Gene: LDLR

Linked Data

• ClinVar Variation Id: 2704792
• ClinVar RCV Id: RCV003582320

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116990_11116993del , CM000681.2:g.11116990_11116993del	GRCh38
NC_000019.9:g.11227666_11227669del , CM000681.1:g.11227666_11227669del	GRCh37
NC_000019.8:g.11088666_11088669del	NCBI36
NG_009060.1:g.32610_32613del , LRG_274:g.32610_32613del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2095_2098del	ENSP00000252444.6:p.Val699LeufsTer?
ENST00000559340.2:c.1705+778_1705+781del	ENSP00000453696.2:n.1705+778_1705+781del
ENST00000560467.2:c.1717_1720del	ENSP00000453513.2:p.Val573LeufsTer?
ENST00000558518.6:c.1837_1840del MANE Select	ENSP00000454071.1:p.Val613LeufsTer?
ENST00000252444.9:c.2091_2094del
ENST00000455727.6:c.1333_1336del	ENSP00000397829.2:p.Val445LeufsTer?
ENST00000535915.5:c.1714_1717del	ENSP00000440520.1:p.Val572LeufsTer?
ENST00000545707.5:c.1456_1459del	ENSP00000437639.1:p.Val486LeufsTer?
ENST00000557933.5:c.1837_1840del	ENSP00000453557.1:p.Val613LeufsTer?
ENST00000558013.5:c.1837_1840del	ENSP00000453346.1:p.Val613LeufsTer?
ENST00000558518.5:c.1837_1840del	ENSP00000454071.1:p.Val613LeufsTer?
ENST00000559340.1:c.426+778_426+781del
NM_000527.4:c.1837_1840del , LRG_274t1:c.1837_1840del	NP_000518.1:p.Val613LeufsTer?
NM_001195798.1:c.1837_1840del	NP_001182727.1:p.Val613LeufsTer?
NM_001195799.1:c.1714_1717del	NP_001182728.1:p.Val572LeufsTer?
NM_001195800.1:c.1333_1336del	NP_001182729.1:p.Val445LeufsTer?
NM_001195803.1:c.1456_1459del	NP_001182732.1:p.Val486LeufsTer?
XM_011528010.1:c.1837_1840del	XP_011526312.1:p.Val613LeufsTer?
XM_011528011.1:c.1456_1459del	XP_011526313.1:p.Val486LeufsTer?
XR_244074.2:n.1855+778_1855+781del
XM_011528010.2:c.1837_1840del	XP_011526312.1:p.Val613LeufsTer?
XR_001753685.2:n.1954_1957del
XR_001753686.2:n.1822+778_1822+781del
NM_000527.5:c.1837_1840del MANE Select	NP_000518.1:p.Val613LeufsTer?
NM_001195798.2:c.1837_1840del	NP_001182727.1:p.Val613LeufsTer?
NM_001195799.2:c.1714_1717del	NP_001182728.1:p.Val572LeufsTer?
NM_001195800.2:c.1333_1336del	NP_001182729.1:p.Val445LeufsTer?
NM_001195803.2:c.1456_1459del	NP_001182732.1:p.Val486LeufsTer?