Canonical Allele Identifier: CA2695228180

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113624_11113627dup , CM000681.2:g.11113624_11113627dup	GRCh38
NC_000019.9:g.11224300_11224303dup , CM000681.1:g.11224300_11224303dup	GRCh37
NC_000019.8:g.11085300_11085303dup	NCBI36
NG_009060.1:g.29244_29247dup , LRG_274:g.29244_29247dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1706_1709dup	ENSP00000252444.6:p.Ile570MetfsTer?
ENST00000559340.2:c.1448_1451dup	ENSP00000453696.2:p.Ile484MetfsTer?
ENST00000560467.2:c.1328_1331dup	ENSP00000453513.2:p.Ile444MetfsTer?
ENST00000558518.6:c.1448_1451dup MANE Select	ENSP00000454071.1:p.Ile484MetfsTer?
ENST00000252444.9:c.1702_1705dup
ENST00000455727.6:c.944_947dup	ENSP00000397829.2:p.Ile316MetfsTer?
ENST00000535915.5:c.1325_1328dup	ENSP00000440520.1:p.Ile443MetfsTer?
ENST00000545707.5:c.1067_1070dup	ENSP00000437639.1:p.Ile357MetfsTer?
ENST00000557933.5:c.1448_1451dup	ENSP00000453557.1:p.Ile484MetfsTer?
ENST00000558013.5:c.1448_1451dup	ENSP00000453346.1:p.Ile484MetfsTer?
ENST00000558518.5:c.1448_1451dup	ENSP00000454071.1:p.Ile484MetfsTer?
ENST00000559340.1:c.169_172dup
NM_000527.4:c.1448_1451dup , LRG_274t1:c.1448_1451dup	NP_000518.1:p.Ile484MetfsTer?
NM_001195798.1:c.1448_1451dup	NP_001182727.1:p.Ile484MetfsTer?
NM_001195799.1:c.1325_1328dup	NP_001182728.1:p.Ile443MetfsTer?
NM_001195800.1:c.944_947dup	NP_001182729.1:p.Ile316MetfsTer?
NM_001195803.1:c.1067_1070dup	NP_001182732.1:p.Ile357MetfsTer?
XM_011528010.1:c.1448_1451dup	XP_011526312.1:p.Ile484MetfsTer?
XM_011528011.1:c.1067_1070dup	XP_011526313.1:p.Ile357MetfsTer?
XR_244074.2:n.1598_1601dup
XM_011528010.2:c.1448_1451dup	XP_011526312.1:p.Ile484MetfsTer?
XR_001753685.2:n.1565_1568dup
XR_001753686.2:n.1565_1568dup
NM_000527.5:c.1448_1451dup MANE Select	NP_000518.1:p.Ile484MetfsTer?
NM_001195798.2:c.1448_1451dup	NP_001182727.1:p.Ile484MetfsTer?
NM_001195799.2:c.1325_1328dup	NP_001182728.1:p.Ile443MetfsTer?
NM_001195800.2:c.944_947dup	NP_001182729.1:p.Ile316MetfsTer?
NM_001195803.2:c.1067_1070dup	NP_001182732.1:p.Ile357MetfsTer?