Canonical Allele Identifier: CA2322767739

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105765_11105769delinsTTTTG , CM000681.2:g.11105765_11105769delinsTTTTG	GRCh38
NC_000019.9:g.11216441_11216445delinsTTTTG , CM000681.1:g.11216441_11216445delinsTTTTG	GRCh37
NC_000019.8:g.11077441_11077445delinsTTTTG	NCBI36
NG_009060.1:g.21385_21389delinsTTTTG , LRG_274:g.21385_21389delinsTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+165_952+169delinsTTTTG	ENSP00000252444.6:n.952+165_952+169delinsTTTTG
ENST00000559340.2:c.694+165_694+169delinsTTTTG	ENSP00000453696.2:n.694+165_694+169delinsTTTTG
ENST00000560467.2:c.694+165_694+169delinsTTTTG	ENSP00000453513.2:n.694+165_694+169delinsTTTTG
ENST00000558518.6:c.694+165_694+169delinsTTTTG MANE Select	ENSP00000454071.1:n.694+165_694+169delinsTTTTG
ENST00000252444.9:c.948+165_948+169delinsTTTTG
ENST00000455727.6:c.314-1627_314-1623delinsTTTTG	ENSP00000397829.2:n.314-1627_314-1623delinsTTTTG
ENST00000535915.5:c.571+165_571+169delinsTTTTG	ENSP00000440520.1:n.571+165_571+169delinsTTTTG
ENST00000545707.5:c.314-800_314-796delinsTTTTG	ENSP00000437639.1:n.314-800_314-796delinsTTTTG
ENST00000557933.5:c.694+165_694+169delinsTTTTG	ENSP00000453557.1:n.694+165_694+169delinsTTTTG
ENST00000558013.5:c.694+165_694+169delinsTTTTG	ENSP00000453346.1:n.694+165_694+169delinsTTTTG
ENST00000558518.5:c.694+165_694+169delinsTTTTG	ENSP00000454071.1:n.694+165_694+169delinsTTTTG
ENST00000560467.1:c.294+165_294+169delinsTTTTG
NM_000527.4:c.694+165_694+169delinsTTTTG , LRG_274t1:c.694+165_694+169delinsTTTTG	NP_000518.1:n.694+165_694+169delinsTTTTG
NM_001195798.1:c.694+165_694+169delinsTTTTG	NP_001182727.1:n.694+165_694+169delinsTTTTG
NM_001195799.1:c.571+165_571+169delinsTTTTG	NP_001182728.1:n.571+165_571+169delinsTTTTG
NM_001195800.1:c.314-1627_314-1623delinsTTTTG	NP_001182729.1:n.314-1627_314-1623delinsTTTTG
NM_001195803.1:c.314-800_314-796delinsTTTTG	NP_001182732.1:n.314-800_314-796delinsTTTTG
XM_011528010.1:c.694+165_694+169delinsTTTTG	XP_011526312.1:n.694+165_694+169delinsTTTTG
XM_011528011.1:c.314-800_314-796delinsTTTTG	XP_011526313.1:n.314-800_314-796delinsTTTTG
XR_244074.2:n.844+165_844+169delinsTTTTG
XM_011528010.2:c.694+165_694+169delinsTTTTG	XP_011526312.1:n.694+165_694+169delinsTTTTG
XR_001753685.2:n.811+165_811+169delinsTTTTG
XR_001753686.2:n.811+165_811+169delinsTTTTG
NM_000527.5:c.694+165_694+169delinsTTTTG MANE Select	NP_000518.1:n.694+165_694+169delinsTTTTG
NM_001195798.2:c.694+165_694+169delinsTTTTG	NP_001182727.1:n.694+165_694+169delinsTTTTG
NM_001195799.2:c.571+165_571+169delinsTTTTG	NP_001182728.1:n.571+165_571+169delinsTTTTG
NM_001195800.2:c.314-1627_314-1623delinsTTTTG	NP_001182729.1:n.314-1627_314-1623delinsTTTTG
NM_001195803.2:c.314-800_314-796delinsTTTTG	NP_001182732.1:n.314-800_314-796delinsTTTTG