Canonical Allele Identifier: CA1139666247

Gene: LDLR

Linked Data

• ClinVar Variation Id: 977983
• ClinVar RCV Id: RCV001255935
• dbSNP Id: rs2077662026

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11128064_11128070del , CM000681.2:g.11128064_11128070del	GRCh38
NC_000019.9:g.11238740_11238746del , CM000681.1:g.11238740_11238746del	GRCh37
NC_000019.8:g.11099740_11099746del	NCBI36
NG_009060.1:g.43684_43690del , LRG_274:g.43684_43690del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2626_2632del	ENSP00000252444.6:p.Ile878SerfsTer?
ENST00000559340.2:c.*437_*443del	ENSP00000453696.2:n.*437_*443del
ENST00000560467.2:c.2248_2254del	ENSP00000453513.2:p.Ile752SerfsTer?
ENST00000558518.6:c.2368_2374del MANE Select	ENSP00000454071.1:p.Ile792SerfsTer?
ENST00000252444.9:c.2622_2628del
ENST00000455727.6:c.1864_1870del	ENSP00000397829.2:p.Ile624SerfsTer?
ENST00000535915.5:c.2245_2251del	ENSP00000440520.1:p.Ile751SerfsTer?
ENST00000545707.5:c.1834_1840del	ENSP00000437639.1:p.Ile614SerfsTer?
ENST00000557933.5:c.2368_2374del	ENSP00000453557.1:p.Ile792SerfsTer?
ENST00000558013.5:c.2368_2374del	ENSP00000453346.1:p.Ile792SerfsTer?
ENST00000558518.5:c.2368_2374del	ENSP00000454071.1:p.Ile792SerfsTer?
ENST00000560628.1:n.108+410_108+416del
NM_000527.4:c.2368_2374del , LRG_274t1:c.2368_2374del	NP_000518.1:p.Ile792SerfsTer?
NM_001195798.1:c.2368_2374del	NP_001182727.1:p.Ile792SerfsTer?
NM_001195799.1:c.2245_2251del	NP_001182728.1:p.Ile751SerfsTer?
NM_001195800.1:c.1864_1870del	NP_001182729.1:p.Ile624SerfsTer?
NM_001195803.1:c.1834_1840del	NP_001182732.1:p.Ile614SerfsTer?
XM_011528010.1:c.2312-1449_2312-1443del	XP_011526312.1:n.2312-1449_2312-1443del
XM_011528011.1:c.1987_1993del	XP_011526313.1:p.Ile665SerfsTer?
XR_244074.2:n.2378_2384del
XM_011528010.2:c.2312-1449_2312-1443del	XP_011526312.1:n.2312-1449_2312-1443del
XR_001753685.2:n.2702_2708del
XR_001753686.2:n.2345_2351del
NM_000527.5:c.2368_2374del MANE Select	NP_000518.1:p.Ile792SerfsTer?
NM_001195798.2:c.2368_2374del	NP_001182727.1:p.Ile792SerfsTer?
NM_001195799.2:c.2245_2251del	NP_001182728.1:p.Ile751SerfsTer?
NM_001195800.2:c.1864_1870del	NP_001182729.1:p.Ile624SerfsTer?
NM_001195803.2:c.1834_1840del	NP_001182732.1:p.Ile614SerfsTer?