Canonical Allele Identifier: CA2322767750

Gene: LDLR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105791_11105793delinsCTG , CM000681.2:g.11105791_11105793delinsCTG	GRCh38
NC_000019.9:g.11216467_11216469delinsCTG , CM000681.1:g.11216467_11216469delinsCTG	GRCh37
NC_000019.8:g.11077467_11077469delinsCTG	NCBI36
NG_009060.1:g.21411_21413delinsCTG , LRG_274:g.21411_21413delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+191_952+193delinsCTG	ENSP00000252444.6:n.952+191_952+193delinsCTG
ENST00000559340.2:c.694+191_694+193delinsCTG	ENSP00000453696.2:n.694+191_694+193delinsCTG
ENST00000560467.2:c.694+191_694+193delinsCTG	ENSP00000453513.2:n.694+191_694+193delinsCTG
ENST00000558518.6:c.694+191_694+193delinsCTG MANE Select	ENSP00000454071.1:n.694+191_694+193delinsCTG
ENST00000252444.9:c.948+191_948+193delinsCTG
ENST00000455727.6:c.314-1601_314-1599delinsCTG	ENSP00000397829.2:n.314-1601_314-1599delinsCTG
ENST00000535915.5:c.571+191_571+193delinsCTG	ENSP00000440520.1:n.571+191_571+193delinsCTG
ENST00000545707.5:c.314-774_314-772delinsCTG	ENSP00000437639.1:n.314-774_314-772delinsCTG
ENST00000557933.5:c.694+191_694+193delinsCTG	ENSP00000453557.1:n.694+191_694+193delinsCTG
ENST00000558013.5:c.694+191_694+193delinsCTG	ENSP00000453346.1:n.694+191_694+193delinsCTG
ENST00000558518.5:c.694+191_694+193delinsCTG	ENSP00000454071.1:n.694+191_694+193delinsCTG
ENST00000560467.1:c.294+191_294+193delinsCTG
NM_000527.4:c.694+191_694+193delinsCTG , LRG_274t1:c.694+191_694+193delinsCTG	NP_000518.1:n.694+191_694+193delinsCTG
NM_001195798.1:c.694+191_694+193delinsCTG	NP_001182727.1:n.694+191_694+193delinsCTG
NM_001195799.1:c.571+191_571+193delinsCTG	NP_001182728.1:n.571+191_571+193delinsCTG
NM_001195800.1:c.314-1601_314-1599delinsCTG	NP_001182729.1:n.314-1601_314-1599delinsCTG
NM_001195803.1:c.314-774_314-772delinsCTG	NP_001182732.1:n.314-774_314-772delinsCTG
XM_011528010.1:c.694+191_694+193delinsCTG	XP_011526312.1:n.694+191_694+193delinsCTG
XM_011528011.1:c.314-774_314-772delinsCTG	XP_011526313.1:n.314-774_314-772delinsCTG
XR_244074.2:n.844+191_844+193delinsCTG
XM_011528010.2:c.694+191_694+193delinsCTG	XP_011526312.1:n.694+191_694+193delinsCTG
XR_001753685.2:n.811+191_811+193delinsCTG
XR_001753686.2:n.811+191_811+193delinsCTG
NM_000527.5:c.694+191_694+193delinsCTG MANE Select	NP_000518.1:n.694+191_694+193delinsCTG
NM_001195798.2:c.694+191_694+193delinsCTG	NP_001182727.1:n.694+191_694+193delinsCTG
NM_001195799.2:c.571+191_571+193delinsCTG	NP_001182728.1:n.571+191_571+193delinsCTG
NM_001195800.2:c.314-1601_314-1599delinsCTG	NP_001182729.1:n.314-1601_314-1599delinsCTG
NM_001195803.2:c.314-774_314-772delinsCTG	NP_001182732.1:n.314-774_314-772delinsCTG