Canonical Allele Identifier: CA2582473982

Gene: LDLR

Linked Data

• gnomAD v4: 19-11107372-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11107379_11107380dup , CM000681.2:g.11107379_11107380dup	GRCh38
NC_000019.9:g.11218055_11218056dup , CM000681.1:g.11218055_11218056dup	GRCh37
NC_000019.8:g.11079055_11079056dup	NCBI36
NG_009060.1:g.22999_23000dup , LRG_274:g.22999_23000dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.1076-13_1076-12dup	ENSP00000252444.6:n.1076-13_1076-12dup
ENST00000559340.2:c.818-13_818-12dup	ENSP00000453696.2:n.818-13_818-12dup
ENST00000560467.2:c.818-13_818-12dup	ENSP00000453513.2:n.818-13_818-12dup
ENST00000558518.6:c.818-13_818-12dup MANE Select	ENSP00000454071.1:n.818-13_818-12dup
ENST00000252444.9:c.1072-13_1072-12dup
ENST00000455727.6:c.314-13_314-12dup	ENSP00000397829.2:n.314-13_314-12dup
ENST00000535915.5:c.695-13_695-12dup	ENSP00000440520.1:n.695-13_695-12dup
ENST00000545707.5:c.437-13_437-12dup	ENSP00000437639.1:n.437-13_437-12dup
ENST00000557933.5:c.818-13_818-12dup	ENSP00000453557.1:n.818-13_818-12dup
ENST00000558013.5:c.818-13_818-12dup	ENSP00000453346.1:n.818-13_818-12dup
ENST00000558518.5:c.818-13_818-12dup	ENSP00000454071.1:n.818-13_818-12dup
ENST00000558528.1:n.333-13_333-12dup
ENST00000560467.1:c.418-13_418-12dup
NM_000527.4:c.818-13_818-12dup , LRG_274t1:c.818-13_818-12dup	NP_000518.1:n.818-13_818-12dup
NM_001195798.1:c.818-13_818-12dup	NP_001182727.1:n.818-13_818-12dup
NM_001195799.1:c.695-13_695-12dup	NP_001182728.1:n.695-13_695-12dup
NM_001195800.1:c.314-13_314-12dup	NP_001182729.1:n.314-13_314-12dup
NM_001195803.1:c.437-13_437-12dup	NP_001182732.1:n.437-13_437-12dup
XM_011528010.1:c.818-13_818-12dup	XP_011526312.1:n.818-13_818-12dup
XM_011528011.1:c.437-13_437-12dup	XP_011526313.1:n.437-13_437-12dup
XR_244074.2:n.968-13_968-12dup
XM_011528010.2:c.818-13_818-12dup	XP_011526312.1:n.818-13_818-12dup
XR_001753685.2:n.935-13_935-12dup
XR_001753686.2:n.935-13_935-12dup
NM_000527.5:c.818-13_818-12dup MANE Select	NP_000518.1:n.818-13_818-12dup
NM_001195798.2:c.818-13_818-12dup	NP_001182727.1:n.818-13_818-12dup
NM_001195799.2:c.695-13_695-12dup	NP_001182728.1:n.695-13_695-12dup
NM_001195800.2:c.314-13_314-12dup	NP_001182729.1:n.314-13_314-12dup
NM_001195803.2:c.437-13_437-12dup	NP_001182732.1:n.437-13_437-12dup