Canonical Allele Identifier: CA2813598416

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11113731_11113732insACACCCAA , CM000681.2:g.11113731_11113732insACACCCAA	GRCh38
NC_000019.9:g.11224407_11224408insACACCCAA , CM000681.1:g.11224407_11224408insACACCCAA	GRCh37
NC_000019.8:g.11085407_11085408insACACCCAA	NCBI36
NG_009060.1:g.29351_29352insACACCCAA , LRG_274:g.29351_29352insACACCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1813_1814insACACCCAA	ENSP00000252444.6:p.Pro605HisfsTer32
ENST00000559340.2:c.1555_1556insACACCCAA	ENSP00000453696.2:p.Pro519HisfsTer32
ENST00000560467.2:c.1435_1436insACACCCAA	ENSP00000453513.2:p.Pro479HisfsTer32
ENST00000558518.6:c.1555_1556insACACCCAA MANE Select	ENSP00000454071.1:p.Pro519HisfsTer32
ENST00000252444.9:c.1809_1810insACACCCAA
ENST00000455727.6:c.1051_1052insACACCCAA	ENSP00000397829.2:p.Pro351HisfsTer32
ENST00000535915.5:c.1432_1433insACACCCAA	ENSP00000440520.1:p.Pro478HisfsTer32
ENST00000545707.5:c.1174_1175insACACCCAA	ENSP00000437639.1:p.Pro392HisfsTer32
ENST00000557933.5:c.1555_1556insACACCCAA	ENSP00000453557.1:p.Pro519HisfsTer32
ENST00000558013.5:c.1555_1556insACACCCAA	ENSP00000453346.1:p.Pro519HisfsTer32
ENST00000558518.5:c.1555_1556insACACCCAA	ENSP00000454071.1:p.Pro519HisfsTer32
ENST00000559340.1:c.276_277insACACCCAA
NM_000527.4:c.1555_1556insACACCCAA , LRG_274t1:c.1555_1556insACACCCAA	NP_000518.1:p.Pro519HisfsTer32
NM_001195798.1:c.1555_1556insACACCCAA	NP_001182727.1:p.Pro519HisfsTer32
NM_001195799.1:c.1432_1433insACACCCAA	NP_001182728.1:p.Pro478HisfsTer32
NM_001195800.1:c.1051_1052insACACCCAA	NP_001182729.1:p.Pro351HisfsTer32
NM_001195803.1:c.1174_1175insACACCCAA	NP_001182732.1:p.Pro392HisfsTer32
XM_011528010.1:c.1555_1556insACACCCAA	XP_011526312.1:p.Pro519HisfsTer32
XM_011528011.1:c.1174_1175insACACCCAA	XP_011526313.1:p.Pro392HisfsTer32
XR_244074.2:n.1705_1706insACACCCAA
XM_011528010.2:c.1555_1556insACACCCAA	XP_011526312.1:p.Pro519HisfsTer32
XR_001753685.2:n.1672_1673insACACCCAA
XR_001753686.2:n.1672_1673insACACCCAA
NM_000527.5:c.1555_1556insACACCCAA MANE Select	NP_000518.1:p.Pro519HisfsTer32
NM_001195798.2:c.1555_1556insACACCCAA	NP_001182727.1:p.Pro519HisfsTer32
NM_001195799.2:c.1432_1433insACACCCAA	NP_001182728.1:p.Pro478HisfsTer32
NM_001195800.2:c.1051_1052insACACCCAA	NP_001182729.1:p.Pro351HisfsTer32
NM_001195803.2:c.1174_1175insACACCCAA	NP_001182732.1:p.Pro392HisfsTer32