Canonical Allele Identifier: CA2322773745

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116980_11116990delinsCTCCTTGGCCG , CM000681.2:g.11116980_11116990delinsCTCCTTGGCCG	GRCh38
NC_000019.9:g.11227656_11227666delinsCTCCTTGGCCG , CM000681.1:g.11227656_11227666delinsCTCCTTGGCCG	GRCh37
NC_000019.8:g.11088656_11088666delinsCTCCTTGGCCG	NCBI36
NG_009060.1:g.32600_32610delinsCTCCTTGGCCG , LRG_274:g.32600_32610delinsCTCCTTGGCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2085_2095delinsCTCCTTGGCCG	ENSP00000252444.6:p.Phe695=
ENST00000559340.2:c.1705+768_1705+778delinsCTCCTTGGCCG	ENSP00000453696.2:n.1705+768_1705+778delinsCTCCTTGGCCG
ENST00000560467.2:c.1707_1717delinsCTCCTTGGCCG	ENSP00000453513.2:p.Phe569=
ENST00000558518.6:c.1827_1837delinsCTCCTTGGCCG MANE Select	ENSP00000454071.1:p.Phe609=
ENST00000252444.9:c.2081_2091delinsCTCCTTGGCCG
ENST00000455727.6:c.1323_1333delinsCTCCTTGGCCG	ENSP00000397829.2:p.Phe441=
ENST00000535915.5:c.1704_1714delinsCTCCTTGGCCG	ENSP00000440520.1:p.Phe568=
ENST00000545707.5:c.1446_1456delinsCTCCTTGGCCG	ENSP00000437639.1:p.Phe482=
ENST00000557933.5:c.1827_1837delinsCTCCTTGGCCG	ENSP00000453557.1:p.Phe609=
ENST00000558013.5:c.1827_1837delinsCTCCTTGGCCG	ENSP00000453346.1:p.Phe609=
ENST00000558518.5:c.1827_1837delinsCTCCTTGGCCG	ENSP00000454071.1:p.Phe609=
ENST00000559340.1:c.426+768_426+778delinsCTCCTTGGCCG
NM_000527.4:c.1827_1837delinsCTCCTTGGCCG , LRG_274t1:c.1827_1837delinsCTCCTTGGCCG	NP_000518.1:p.Phe609=
NM_001195798.1:c.1827_1837delinsCTCCTTGGCCG	NP_001182727.1:p.Phe609=
NM_001195799.1:c.1704_1714delinsCTCCTTGGCCG	NP_001182728.1:p.Phe568=
NM_001195800.1:c.1323_1333delinsCTCCTTGGCCG	NP_001182729.1:p.Phe441=
NM_001195803.1:c.1446_1456delinsCTCCTTGGCCG	NP_001182732.1:p.Phe482=
XM_011528010.1:c.1827_1837delinsCTCCTTGGCCG	XP_011526312.1:p.Phe609=
XM_011528011.1:c.1446_1456delinsCTCCTTGGCCG	XP_011526313.1:p.Phe482=
XR_244074.2:n.1855+768_1855+778delinsCTCCTTGGCCG
XM_011528010.2:c.1827_1837delinsCTCCTTGGCCG	XP_011526312.1:p.Phe609=
XR_001753685.2:n.1944_1954delinsCTCCTTGGCCG
XR_001753686.2:n.1822+768_1822+778delinsCTCCTTGGCCG
NM_000527.5:c.1827_1837delinsCTCCTTGGCCG MANE Select	NP_000518.1:p.Phe609=
NM_001195798.2:c.1827_1837delinsCTCCTTGGCCG	NP_001182727.1:p.Phe609=
NM_001195799.2:c.1704_1714delinsCTCCTTGGCCG	NP_001182728.1:p.Phe568=
NM_001195800.2:c.1323_1333delinsCTCCTTGGCCG	NP_001182729.1:p.Phe441=
NM_001195803.2:c.1446_1456delinsCTCCTTGGCCG	NP_001182732.1:p.Phe482=