Canonical Allele Identifier: CA2322773217

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116066_11116068delinsTCA , CM000681.2:g.11116066_11116068delinsTCA	GRCh38
NC_000019.9:g.11226742_11226744delinsTCA , CM000681.1:g.11226742_11226744delinsTCA	GRCh37
NC_000019.8:g.11087742_11087744delinsTCA	NCBI36
NG_009060.1:g.31686_31688delinsTCA , LRG_274:g.31686_31688delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1845-28_1845-26delinsTCA	ENSP00000252444.6:n.1845-28_1845-26delinsTCA
ENST00000559340.2:c.1587-28_1587-26delinsTCA	ENSP00000453696.2:n.1587-28_1587-26delinsTCA
ENST00000560467.2:c.1467-28_1467-26delinsTCA	ENSP00000453513.2:n.1467-28_1467-26delinsTCA
ENST00000558518.6:c.1587-28_1587-26delinsTCA MANE Select	ENSP00000454071.1:n.1587-28_1587-26delinsTCA
ENST00000252444.9:c.1841-28_1841-26delinsTCA
ENST00000455727.6:c.1083-28_1083-26delinsTCA	ENSP00000397829.2:n.1083-28_1083-26delinsTCA
ENST00000535915.5:c.1464-28_1464-26delinsTCA	ENSP00000440520.1:n.1464-28_1464-26delinsTCA
ENST00000545707.5:c.1206-28_1206-26delinsTCA	ENSP00000437639.1:n.1206-28_1206-26delinsTCA
ENST00000557933.5:c.1587-28_1587-26delinsTCA	ENSP00000453557.1:n.1587-28_1587-26delinsTCA
ENST00000558013.5:c.1587-28_1587-26delinsTCA	ENSP00000453346.1:n.1587-28_1587-26delinsTCA
ENST00000558518.5:c.1587-28_1587-26delinsTCA	ENSP00000454071.1:n.1587-28_1587-26delinsTCA
ENST00000559340.1:c.308-28_308-26delinsTCA
NM_000527.4:c.1587-28_1587-26delinsTCA , LRG_274t1:c.1587-28_1587-26delinsTCA	NP_000518.1:n.1587-28_1587-26delinsTCA
NM_001195798.1:c.1587-28_1587-26delinsTCA	NP_001182727.1:n.1587-28_1587-26delinsTCA
NM_001195799.1:c.1464-28_1464-26delinsTCA	NP_001182728.1:n.1464-28_1464-26delinsTCA
NM_001195800.1:c.1083-28_1083-26delinsTCA	NP_001182729.1:n.1083-28_1083-26delinsTCA
NM_001195803.1:c.1206-28_1206-26delinsTCA	NP_001182732.1:n.1206-28_1206-26delinsTCA
XM_011528010.1:c.1587-28_1587-26delinsTCA	XP_011526312.1:n.1587-28_1587-26delinsTCA
XM_011528011.1:c.1206-28_1206-26delinsTCA	XP_011526313.1:n.1206-28_1206-26delinsTCA
XR_244074.2:n.1737-28_1737-26delinsTCA
XM_011528010.2:c.1587-28_1587-26delinsTCA	XP_011526312.1:n.1587-28_1587-26delinsTCA
XR_001753685.2:n.1704-28_1704-26delinsTCA
XR_001753686.2:n.1704-28_1704-26delinsTCA
NM_000527.5:c.1587-28_1587-26delinsTCA MANE Select	NP_000518.1:n.1587-28_1587-26delinsTCA
NM_001195798.2:c.1587-28_1587-26delinsTCA	NP_001182727.1:n.1587-28_1587-26delinsTCA
NM_001195799.2:c.1464-28_1464-26delinsTCA	NP_001182728.1:n.1464-28_1464-26delinsTCA
NM_001195800.2:c.1083-28_1083-26delinsTCA	NP_001182729.1:n.1083-28_1083-26delinsTCA
NM_001195803.2:c.1206-28_1206-26delinsTCA	NP_001182732.1:n.1206-28_1206-26delinsTCA