Canonical Allele Identifier: CA2322767746

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105784_11105788delinsTCTCA , CM000681.2:g.11105784_11105788delinsTCTCA	GRCh38
NC_000019.9:g.11216460_11216464delinsTCTCA , CM000681.1:g.11216460_11216464delinsTCTCA	GRCh37
NC_000019.8:g.11077460_11077464delinsTCTCA	NCBI36
NG_009060.1:g.21404_21408delinsTCTCA , LRG_274:g.21404_21408delinsTCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+184_952+188delinsTCTCA	ENSP00000252444.6:n.952+184_952+188delinsTCTCA
ENST00000559340.2:c.694+184_694+188delinsTCTCA	ENSP00000453696.2:n.694+184_694+188delinsTCTCA
ENST00000560467.2:c.694+184_694+188delinsTCTCA	ENSP00000453513.2:n.694+184_694+188delinsTCTCA
ENST00000558518.6:c.694+184_694+188delinsTCTCA MANE Select	ENSP00000454071.1:n.694+184_694+188delinsTCTCA
ENST00000252444.9:c.948+184_948+188delinsTCTCA
ENST00000455727.6:c.314-1608_314-1604delinsTCTCA	ENSP00000397829.2:n.314-1608_314-1604delinsTCTCA
ENST00000535915.5:c.571+184_571+188delinsTCTCA	ENSP00000440520.1:n.571+184_571+188delinsTCTCA
ENST00000545707.5:c.314-781_314-777delinsTCTCA	ENSP00000437639.1:n.314-781_314-777delinsTCTCA
ENST00000557933.5:c.694+184_694+188delinsTCTCA	ENSP00000453557.1:n.694+184_694+188delinsTCTCA
ENST00000558013.5:c.694+184_694+188delinsTCTCA	ENSP00000453346.1:n.694+184_694+188delinsTCTCA
ENST00000558518.5:c.694+184_694+188delinsTCTCA	ENSP00000454071.1:n.694+184_694+188delinsTCTCA
ENST00000560467.1:c.294+184_294+188delinsTCTCA
NM_000527.4:c.694+184_694+188delinsTCTCA , LRG_274t1:c.694+184_694+188delinsTCTCA	NP_000518.1:n.694+184_694+188delinsTCTCA
NM_001195798.1:c.694+184_694+188delinsTCTCA	NP_001182727.1:n.694+184_694+188delinsTCTCA
NM_001195799.1:c.571+184_571+188delinsTCTCA	NP_001182728.1:n.571+184_571+188delinsTCTCA
NM_001195800.1:c.314-1608_314-1604delinsTCTCA	NP_001182729.1:n.314-1608_314-1604delinsTCTCA
NM_001195803.1:c.314-781_314-777delinsTCTCA	NP_001182732.1:n.314-781_314-777delinsTCTCA
XM_011528010.1:c.694+184_694+188delinsTCTCA	XP_011526312.1:n.694+184_694+188delinsTCTCA
XM_011528011.1:c.314-781_314-777delinsTCTCA	XP_011526313.1:n.314-781_314-777delinsTCTCA
XR_244074.2:n.844+184_844+188delinsTCTCA
XM_011528010.2:c.694+184_694+188delinsTCTCA	XP_011526312.1:n.694+184_694+188delinsTCTCA
XR_001753685.2:n.811+184_811+188delinsTCTCA
XR_001753686.2:n.811+184_811+188delinsTCTCA
NM_000527.5:c.694+184_694+188delinsTCTCA MANE Select	NP_000518.1:n.694+184_694+188delinsTCTCA
NM_001195798.2:c.694+184_694+188delinsTCTCA	NP_001182727.1:n.694+184_694+188delinsTCTCA
NM_001195799.2:c.571+184_571+188delinsTCTCA	NP_001182728.1:n.571+184_571+188delinsTCTCA
NM_001195800.2:c.314-1608_314-1604delinsTCTCA	NP_001182729.1:n.314-1608_314-1604delinsTCTCA
NM_001195803.2:c.314-781_314-777delinsTCTCA	NP_001182732.1:n.314-781_314-777delinsTCTCA