Canonical Allele Identifier: CA2497030089

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116906dup , CM000681.2:g.11116906dup	GRCh38
NC_000019.9:g.11227582dup , CM000681.1:g.11227582dup	GRCh37
NC_000019.8:g.11088582dup	NCBI36
NG_009060.1:g.32526dup , LRG_274:g.32526dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2011dup	ENSP00000252444.6:p.Ile671AsnfsTer18
ENST00000559340.2:c.1705+694dup	ENSP00000453696.2:n.1705+694dup
ENST00000560467.2:c.1633dup	ENSP00000453513.2:p.Ile545AsnfsTer18
ENST00000558518.6:c.1753dup MANE Select	ENSP00000454071.1:p.Ile585AsnfsTer18
ENST00000252444.9:c.2007dup
ENST00000455727.6:c.1249dup	ENSP00000397829.2:p.Ile417AsnfsTer18
ENST00000535915.5:c.1630dup	ENSP00000440520.1:p.Ile544AsnfsTer18
ENST00000545707.5:c.1372dup	ENSP00000437639.1:p.Ile458AsnfsTer18
ENST00000557933.5:c.1753dup	ENSP00000453557.1:p.Ile585AsnfsTer18
ENST00000558013.5:c.1753dup	ENSP00000453346.1:p.Ile585AsnfsTer18
ENST00000558518.5:c.1753dup	ENSP00000454071.1:p.Ile585AsnfsTer18
ENST00000559340.1:c.426+694dup
NM_000527.4:c.1753dup , LRG_274t1:c.1753dup	NP_000518.1:p.Ile585AsnfsTer18
NM_001195798.1:c.1753dup	NP_001182727.1:p.Ile585AsnfsTer18
NM_001195799.1:c.1630dup	NP_001182728.1:p.Ile544AsnfsTer18
NM_001195800.1:c.1249dup	NP_001182729.1:p.Ile417AsnfsTer18
NM_001195803.1:c.1372dup	NP_001182732.1:p.Ile458AsnfsTer18
XM_011528010.1:c.1753dup	XP_011526312.1:p.Ile585AsnfsTer18
XM_011528011.1:c.1372dup	XP_011526313.1:p.Ile458AsnfsTer18
XR_244074.2:n.1855+694dup
XM_011528010.2:c.1753dup	XP_011526312.1:p.Ile585AsnfsTer18
XR_001753685.2:n.1870dup
XR_001753686.2:n.1822+694dup
NM_000527.5:c.1753dup MANE Select	NP_000518.1:p.Ile585AsnfsTer18
NM_001195798.2:c.1753dup	NP_001182727.1:p.Ile585AsnfsTer18
NM_001195799.2:c.1630dup	NP_001182728.1:p.Ile544AsnfsTer18
NM_001195800.2:c.1249dup	NP_001182729.1:p.Ile417AsnfsTer18
NM_001195803.2:c.1372dup	NP_001182732.1:p.Ile458AsnfsTer18