Canonical Allele Identifier: CA2322771691

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113292_11113295delinsCTCT , CM000681.2:g.11113292_11113295delinsCTCT	GRCh38
NC_000019.9:g.11223968_11223971delinsCTCT , CM000681.1:g.11223968_11223971delinsCTCT	GRCh37
NC_000019.8:g.11084968_11084971delinsCTCT	NCBI36
NG_009060.1:g.28912_28915delinsCTCT , LRG_274:g.28912_28915delinsCTCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1459_1462delinsCTCT	ENSP00000252444.6:p.Leu487=
ENST00000559340.2:c.1201_1204delinsCTCT	ENSP00000453696.2:p.Leu401=
ENST00000560467.2:c.1081_1084delinsCTCT	ENSP00000453513.2:p.Leu361=
ENST00000558518.6:c.1201_1204delinsCTCT MANE Select	ENSP00000454071.1:p.Leu401=
ENST00000252444.9:c.1455_1458delinsCTCT
ENST00000455727.6:c.697_700delinsCTCT	ENSP00000397829.2:p.Leu233=
ENST00000535915.5:c.1078_1081delinsCTCT	ENSP00000440520.1:p.Leu360=
ENST00000545707.5:c.820_823delinsCTCT	ENSP00000437639.1:p.Leu274=
ENST00000557933.5:c.1201_1204delinsCTCT	ENSP00000453557.1:p.Leu401=
ENST00000558013.5:c.1201_1204delinsCTCT	ENSP00000453346.1:p.Leu401=
ENST00000558518.5:c.1201_1204delinsCTCT	ENSP00000454071.1:p.Leu401=
ENST00000560173.1:n.200_203delinsCTCT
ENST00000560467.1:c.681_684delinsCTCT
NM_000527.4:c.1201_1204delinsCTCT , LRG_274t1:c.1201_1204delinsCTCT	NP_000518.1:p.Leu401=
NM_001195798.1:c.1201_1204delinsCTCT	NP_001182727.1:p.Leu401=
NM_001195799.1:c.1078_1081delinsCTCT	NP_001182728.1:p.Leu360=
NM_001195800.1:c.697_700delinsCTCT	NP_001182729.1:p.Leu233=
NM_001195803.1:c.820_823delinsCTCT	NP_001182732.1:p.Leu274=
XM_011528010.1:c.1201_1204delinsCTCT	XP_011526312.1:p.Leu401=
XM_011528011.1:c.820_823delinsCTCT	XP_011526313.1:p.Leu274=
XR_244074.2:n.1351_1354delinsCTCT
XM_011528010.2:c.1201_1204delinsCTCT	XP_011526312.1:p.Leu401=
XR_001753685.2:n.1318_1321delinsCTCT
XR_001753686.2:n.1318_1321delinsCTCT
NM_000527.5:c.1201_1204delinsCTCT MANE Select	NP_000518.1:p.Leu401=
NM_001195798.2:c.1201_1204delinsCTCT	NP_001182727.1:p.Leu401=
NM_001195799.2:c.1078_1081delinsCTCT	NP_001182728.1:p.Leu360=
NM_001195800.2:c.697_700delinsCTCT	NP_001182729.1:p.Leu233=
NM_001195803.2:c.820_823delinsCTCT	NP_001182732.1:p.Leu274=