Canonical Allele Identifier: CA305298167

Gene: LDLR

Linked Data

• dbSNP Id: rs768779298
• MyVariant Identifiers: chr19:g.11216461_11216464del (hg19) ; chr19:g.11105785_11105788del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105788_11105791del , CM000681.2:g.11105788_11105791del	GRCh38
NC_000019.9:g.11216464_11216467del , CM000681.1:g.11216464_11216467del	GRCh37
NC_000019.8:g.11077464_11077467del	NCBI36
NG_009060.1:g.21408_21411del , LRG_274:g.21408_21411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+188_952+191del	ENSP00000252444.6:n.952+188_952+191del
ENST00000559340.2:c.694+188_694+191del	ENSP00000453696.2:n.694+188_694+191del
ENST00000560467.2:c.694+188_694+191del	ENSP00000453513.2:n.694+188_694+191del
ENST00000558518.6:c.694+188_694+191del MANE Select	ENSP00000454071.1:n.694+188_694+191del
ENST00000252444.9:c.948+188_948+191del
ENST00000455727.6:c.314-1604_314-1601del	ENSP00000397829.2:n.314-1604_314-1601del
ENST00000535915.5:c.571+188_571+191del	ENSP00000440520.1:n.571+188_571+191del
ENST00000545707.5:c.314-777_314-774del	ENSP00000437639.1:n.314-777_314-774del
ENST00000557933.5:c.694+188_694+191del	ENSP00000453557.1:n.694+188_694+191del
ENST00000558013.5:c.694+188_694+191del	ENSP00000453346.1:n.694+188_694+191del
ENST00000558518.5:c.694+188_694+191del	ENSP00000454071.1:n.694+188_694+191del
ENST00000560467.1:c.294+188_294+191del
NM_000527.4:c.694+188_694+191del , LRG_274t1:c.694+188_694+191del	NP_000518.1:n.694+188_694+191del
NM_001195798.1:c.694+188_694+191del	NP_001182727.1:n.694+188_694+191del
NM_001195799.1:c.571+188_571+191del	NP_001182728.1:n.571+188_571+191del
NM_001195800.1:c.314-1604_314-1601del	NP_001182729.1:n.314-1604_314-1601del
NM_001195803.1:c.314-777_314-774del	NP_001182732.1:n.314-777_314-774del
XM_011528010.1:c.694+188_694+191del	XP_011526312.1:n.694+188_694+191del
XM_011528011.1:c.314-777_314-774del	XP_011526313.1:n.314-777_314-774del
XR_244074.2:n.844+188_844+191del
XM_011528010.2:c.694+188_694+191del	XP_011526312.1:n.694+188_694+191del
XR_001753685.2:n.811+188_811+191del
XR_001753686.2:n.811+188_811+191del
NM_000527.5:c.694+188_694+191del MANE Select	NP_000518.1:n.694+188_694+191del
NM_001195798.2:c.694+188_694+191del	NP_001182727.1:n.694+188_694+191del
NM_001195799.2:c.571+188_571+191del	NP_001182728.1:n.571+188_571+191del
NM_001195800.2:c.314-1604_314-1601del	NP_001182729.1:n.314-1604_314-1601del
NM_001195803.2:c.314-777_314-774del	NP_001182732.1:n.314-777_314-774del