Canonical Allele Identifier: CA2322771695

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113295_11113297delinsTTC , CM000681.2:g.11113295_11113297delinsTTC	GRCh38
NC_000019.9:g.11223971_11223973delinsTTC , CM000681.1:g.11223971_11223973delinsTTC	GRCh37
NC_000019.8:g.11084971_11084973delinsTTC	NCBI36
NG_009060.1:g.28915_28917delinsTTC , LRG_274:g.28915_28917delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1462_1464delinsTTC	ENSP00000252444.6:p.Phe488=
ENST00000559340.2:c.1204_1206delinsTTC	ENSP00000453696.2:p.Phe402=
ENST00000560467.2:c.1084_1086delinsTTC	ENSP00000453513.2:p.Phe362=
ENST00000558518.6:c.1204_1206delinsTTC MANE Select	ENSP00000454071.1:p.Phe402=
ENST00000252444.9:c.1458_1460delinsTTC
ENST00000455727.6:c.700_702delinsTTC	ENSP00000397829.2:p.Phe234=
ENST00000535915.5:c.1081_1083delinsTTC	ENSP00000440520.1:p.Phe361=
ENST00000545707.5:c.823_825delinsTTC	ENSP00000437639.1:p.Phe275=
ENST00000557933.5:c.1204_1206delinsTTC	ENSP00000453557.1:p.Phe402=
ENST00000558013.5:c.1204_1206delinsTTC	ENSP00000453346.1:p.Phe402=
ENST00000558518.5:c.1204_1206delinsTTC	ENSP00000454071.1:p.Phe402=
ENST00000560173.1:n.203_205delinsTTC
ENST00000560467.1:c.684_686delinsTTC
NM_000527.4:c.1204_1206delinsTTC , LRG_274t1:c.1204_1206delinsTTC	NP_000518.1:p.Phe402=
NM_001195798.1:c.1204_1206delinsTTC	NP_001182727.1:p.Phe402=
NM_001195799.1:c.1081_1083delinsTTC	NP_001182728.1:p.Phe361=
NM_001195800.1:c.700_702delinsTTC	NP_001182729.1:p.Phe234=
NM_001195803.1:c.823_825delinsTTC	NP_001182732.1:p.Phe275=
XM_011528010.1:c.1204_1206delinsTTC	XP_011526312.1:p.Phe402=
XM_011528011.1:c.823_825delinsTTC	XP_011526313.1:p.Phe275=
XR_244074.2:n.1354_1356delinsTTC
XM_011528010.2:c.1204_1206delinsTTC	XP_011526312.1:p.Phe402=
XR_001753685.2:n.1321_1323delinsTTC
XR_001753686.2:n.1321_1323delinsTTC
NM_000527.5:c.1204_1206delinsTTC MANE Select	NP_000518.1:p.Phe402=
NM_001195798.2:c.1204_1206delinsTTC	NP_001182727.1:p.Phe402=
NM_001195799.2:c.1081_1083delinsTTC	NP_001182728.1:p.Phe361=
NM_001195800.2:c.700_702delinsTTC	NP_001182729.1:p.Phe234=
NM_001195803.2:c.823_825delinsTTC	NP_001182732.1:p.Phe275=