Canonical Allele Identifier: CA2582473395

Gene: LDLR

Linked Data

• gnomAD v4: 19-11105599-CGGTATGGGCGGGGCCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105603_11105619del , CM000681.2:g.11105603_11105619del	GRCh38
NC_000019.9:g.11216279_11216295del , CM000681.1:g.11216279_11216295del	GRCh37
NC_000019.8:g.11077279_11077295del	NCBI36
NG_009060.1:g.21223_21239del , LRG_274:g.21223_21239del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.952+3_952+19del
ENST00000559340.2:c.694+3_694+19del
ENST00000560467.2:c.694+3_694+19del
ENST00000558518.6:c.694+3_694+19del
ENST00000252444.9:c.948+3_948+19del
ENST00000455727.6:c.314-1789_314-1773del	ENSP00000397829.2:n.314-1789_314-1773del
ENST00000535915.5:c.571+3_571+19del
ENST00000545707.5:c.314-962_314-946del	ENSP00000437639.1:n.314-962_314-946del
ENST00000557933.5:c.694+3_694+19del
ENST00000558013.5:c.694+3_694+19del
ENST00000558518.5:c.694+3_694+19del
ENST00000560467.1:c.294+3_294+19del
NM_000527.4:c.694+3_694+19del , LRG_274t1:c.694+3_694+19del
NM_001195798.1:c.694+3_694+19del
NM_001195799.1:c.571+3_571+19del
NM_001195800.1:c.314-1789_314-1773del	NP_001182729.1:n.314-1789_314-1773del
NM_001195803.1:c.314-962_314-946del	NP_001182732.1:n.314-962_314-946del
XM_011528010.1:c.694+3_694+19del
XM_011528011.1:c.314-962_314-946del	XP_011526313.1:n.314-962_314-946del
XR_244074.2:n.844+3_844+19del
XM_011528010.2:c.694+3_694+19del
XR_001753685.2:n.811+3_811+19del
XR_001753686.2:n.811+3_811+19del
NM_000527.5:c.694+3_694+19del
NM_001195798.2:c.694+3_694+19del
NM_001195799.2:c.571+3_571+19del
NM_001195800.2:c.314-1789_314-1773del	NP_001182729.1:n.314-1789_314-1773del
NM_001195803.2:c.314-962_314-946del	NP_001182732.1:n.314-962_314-946del