Canonical Allele Identifier: CA2322773757

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116992_11116994delinsCTT , CM000681.2:g.11116992_11116994delinsCTT	GRCh38
NC_000019.9:g.11227668_11227670delinsCTT , CM000681.1:g.11227668_11227670delinsCTT	GRCh37
NC_000019.8:g.11088668_11088670delinsCTT	NCBI36
NG_009060.1:g.32612_32614delinsCTT , LRG_274:g.32612_32614delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2097_2099delinsCTT	ENSP00000252444.6:p.Val699=
ENST00000559340.2:c.1705+780_1705+782delinsCTT	ENSP00000453696.2:n.1705+780_1705+782delinsCTT
ENST00000560467.2:c.1719_1721delinsCTT	ENSP00000453513.2:p.Val573=
ENST00000558518.6:c.1839_1841delinsCTT MANE Select	ENSP00000454071.1:p.Val613=
ENST00000252444.9:c.2093_2095delinsCTT
ENST00000455727.6:c.1335_1337delinsCTT	ENSP00000397829.2:p.Val445=
ENST00000535915.5:c.1716_1718delinsCTT	ENSP00000440520.1:p.Val572=
ENST00000545707.5:c.1458_1460delinsCTT	ENSP00000437639.1:p.Val486=
ENST00000557933.5:c.1839_1841delinsCTT	ENSP00000453557.1:p.Val613=
ENST00000558013.5:c.1839_1841delinsCTT	ENSP00000453346.1:p.Val613=
ENST00000558518.5:c.1839_1841delinsCTT	ENSP00000454071.1:p.Val613=
ENST00000559340.1:c.426+780_426+782delinsCTT
NM_000527.4:c.1839_1841delinsCTT , LRG_274t1:c.1839_1841delinsCTT	NP_000518.1:p.Val613=
NM_001195798.1:c.1839_1841delinsCTT	NP_001182727.1:p.Val613=
NM_001195799.1:c.1716_1718delinsCTT	NP_001182728.1:p.Val572=
NM_001195800.1:c.1335_1337delinsCTT	NP_001182729.1:p.Val445=
NM_001195803.1:c.1458_1460delinsCTT	NP_001182732.1:p.Val486=
XM_011528010.1:c.1839_1841delinsCTT	XP_011526312.1:p.Val613=
XM_011528011.1:c.1458_1460delinsCTT	XP_011526313.1:p.Val486=
XR_244074.2:n.1855+780_1855+782delinsCTT
XM_011528010.2:c.1839_1841delinsCTT	XP_011526312.1:p.Val613=
XR_001753685.2:n.1956_1958delinsCTT
XR_001753686.2:n.1822+780_1822+782delinsCTT
NM_000527.5:c.1839_1841delinsCTT MANE Select	NP_000518.1:p.Val613=
NM_001195798.2:c.1839_1841delinsCTT	NP_001182727.1:p.Val613=
NM_001195799.2:c.1716_1718delinsCTT	NP_001182728.1:p.Val572=
NM_001195800.2:c.1335_1337delinsCTT	NP_001182729.1:p.Val445=
NM_001195803.2:c.1458_1460delinsCTT	NP_001182732.1:p.Val486=