Canonical Allele Identifier: CA2322771700

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113299_11113300delinsTC , CM000681.2:g.11113299_11113300delinsTC	GRCh38
NC_000019.9:g.11223975_11223976delinsTC , CM000681.1:g.11223975_11223976delinsTC	GRCh37
NC_000019.8:g.11084975_11084976delinsTC	NCBI36
NG_009060.1:g.28919_28920delinsTC , LRG_274:g.28919_28920delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1466_1467delinsTC	ENSP00000252444.6:p.Phe489=
ENST00000559340.2:c.1208_1209delinsTC	ENSP00000453696.2:p.Phe403=
ENST00000560467.2:c.1088_1089delinsTC	ENSP00000453513.2:p.Phe363=
ENST00000558518.6:c.1208_1209delinsTC MANE Select	ENSP00000454071.1:p.Phe403=
ENST00000252444.9:c.1462_1463delinsTC
ENST00000455727.6:c.704_705delinsTC	ENSP00000397829.2:p.Phe235=
ENST00000535915.5:c.1085_1086delinsTC	ENSP00000440520.1:p.Phe362=
ENST00000545707.5:c.827_828delinsTC	ENSP00000437639.1:p.Phe276=
ENST00000557933.5:c.1208_1209delinsTC	ENSP00000453557.1:p.Phe403=
ENST00000558013.5:c.1208_1209delinsTC	ENSP00000453346.1:p.Phe403=
ENST00000558518.5:c.1208_1209delinsTC	ENSP00000454071.1:p.Phe403=
ENST00000560173.1:n.207_208delinsTC
ENST00000560467.1:c.688_689delinsTC
NM_000527.4:c.1208_1209delinsTC , LRG_274t1:c.1208_1209delinsTC	NP_000518.1:p.Phe403=
NM_001195798.1:c.1208_1209delinsTC	NP_001182727.1:p.Phe403=
NM_001195799.1:c.1085_1086delinsTC	NP_001182728.1:p.Phe362=
NM_001195800.1:c.704_705delinsTC	NP_001182729.1:p.Phe235=
NM_001195803.1:c.827_828delinsTC	NP_001182732.1:p.Phe276=
XM_011528010.1:c.1208_1209delinsTC	XP_011526312.1:p.Phe403=
XM_011528011.1:c.827_828delinsTC	XP_011526313.1:p.Phe276=
XR_244074.2:n.1358_1359delinsTC
XM_011528010.2:c.1208_1209delinsTC	XP_011526312.1:p.Phe403=
XR_001753685.2:n.1325_1326delinsTC
XR_001753686.2:n.1325_1326delinsTC
NM_000527.5:c.1208_1209delinsTC MANE Select	NP_000518.1:p.Phe403=
NM_001195798.2:c.1208_1209delinsTC	NP_001182727.1:p.Phe403=
NM_001195799.2:c.1085_1086delinsTC	NP_001182728.1:p.Phe362=
NM_001195800.2:c.704_705delinsTC	NP_001182729.1:p.Phe235=
NM_001195803.2:c.827_828delinsTC	NP_001182732.1:p.Phe276=