Canonical Allele Identifier: CA2576625891

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11116081_11116082del , CM000681.2:g.11116081_11116082del	GRCh38
NC_000019.9:g.11226757_11226758del , CM000681.1:g.11226757_11226758del	GRCh37
NC_000019.8:g.11087757_11087758del	NCBI36
NG_009060.1:g.31701_31702del , LRG_274:g.31701_31702del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.1845-13_1845-12del	ENSP00000252444.6:n.1845-13_1845-12del
ENST00000559340.2:c.1587-13_1587-12del	ENSP00000453696.2:n.1587-13_1587-12del
ENST00000560467.2:c.1467-13_1467-12del	ENSP00000453513.2:n.1467-13_1467-12del
ENST00000558518.6:c.1587-13_1587-12del MANE Select	ENSP00000454071.1:n.1587-13_1587-12del
ENST00000252444.9:c.1841-13_1841-12del
ENST00000455727.6:c.1083-13_1083-12del	ENSP00000397829.2:n.1083-13_1083-12del
ENST00000535915.5:c.1464-13_1464-12del	ENSP00000440520.1:n.1464-13_1464-12del
ENST00000545707.5:c.1206-13_1206-12del	ENSP00000437639.1:n.1206-13_1206-12del
ENST00000557933.5:c.1587-13_1587-12del	ENSP00000453557.1:n.1587-13_1587-12del
ENST00000558013.5:c.1587-13_1587-12del	ENSP00000453346.1:n.1587-13_1587-12del
ENST00000558518.5:c.1587-13_1587-12del	ENSP00000454071.1:n.1587-13_1587-12del
ENST00000559340.1:c.308-13_308-12del
NM_000527.4:c.1587-13_1587-12del , LRG_274t1:c.1587-13_1587-12del	NP_000518.1:n.1587-13_1587-12del
NM_001195798.1:c.1587-13_1587-12del	NP_001182727.1:n.1587-13_1587-12del
NM_001195799.1:c.1464-13_1464-12del	NP_001182728.1:n.1464-13_1464-12del
NM_001195800.1:c.1083-13_1083-12del	NP_001182729.1:n.1083-13_1083-12del
NM_001195803.1:c.1206-13_1206-12del	NP_001182732.1:n.1206-13_1206-12del
XM_011528010.1:c.1587-13_1587-12del	XP_011526312.1:n.1587-13_1587-12del
XM_011528011.1:c.1206-13_1206-12del	XP_011526313.1:n.1206-13_1206-12del
XR_244074.2:n.1737-13_1737-12del
XM_011528010.2:c.1587-13_1587-12del	XP_011526312.1:n.1587-13_1587-12del
XR_001753685.2:n.1704-13_1704-12del
XR_001753686.2:n.1704-13_1704-12del
NM_000527.5:c.1587-13_1587-12del MANE Select	NP_000518.1:n.1587-13_1587-12del
NM_001195798.2:c.1587-13_1587-12del	NP_001182727.1:n.1587-13_1587-12del
NM_001195799.2:c.1464-13_1464-12del	NP_001182728.1:n.1464-13_1464-12del
NM_001195800.2:c.1083-13_1083-12del	NP_001182729.1:n.1083-13_1083-12del
NM_001195803.2:c.1206-13_1206-12del	NP_001182732.1:n.1206-13_1206-12del