Canonical Allele Identifier: CA2582473402

Gene: LDLR

Linked Data

• gnomAD v4: 19-11105604-TGGGCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105609_11105613del , CM000681.2:g.11105609_11105613del	GRCh38
NC_000019.9:g.11216285_11216289del , CM000681.1:g.11216285_11216289del	GRCh37
NC_000019.8:g.11077285_11077289del	NCBI36
NG_009060.1:g.21229_21233del , LRG_274:g.21229_21233del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.952+9_952+13del	ENSP00000252444.6:n.952+9_952+13del
ENST00000559340.2:c.694+9_694+13del	ENSP00000453696.2:n.694+9_694+13del
ENST00000560467.2:c.694+9_694+13del	ENSP00000453513.2:n.694+9_694+13del
ENST00000558518.6:c.694+9_694+13del MANE Select	ENSP00000454071.1:n.694+9_694+13del
ENST00000252444.9:c.948+9_948+13del
ENST00000455727.6:c.314-1783_314-1779del	ENSP00000397829.2:n.314-1783_314-1779del
ENST00000535915.5:c.571+9_571+13del	ENSP00000440520.1:n.571+9_571+13del
ENST00000545707.5:c.314-956_314-952del	ENSP00000437639.1:n.314-956_314-952del
ENST00000557933.5:c.694+9_694+13del	ENSP00000453557.1:n.694+9_694+13del
ENST00000558013.5:c.694+9_694+13del	ENSP00000453346.1:n.694+9_694+13del
ENST00000558518.5:c.694+9_694+13del	ENSP00000454071.1:n.694+9_694+13del
ENST00000560467.1:c.294+9_294+13del
NM_000527.4:c.694+9_694+13del , LRG_274t1:c.694+9_694+13del	NP_000518.1:n.694+9_694+13del
NM_001195798.1:c.694+9_694+13del	NP_001182727.1:n.694+9_694+13del
NM_001195799.1:c.571+9_571+13del	NP_001182728.1:n.571+9_571+13del
NM_001195800.1:c.314-1783_314-1779del	NP_001182729.1:n.314-1783_314-1779del
NM_001195803.1:c.314-956_314-952del	NP_001182732.1:n.314-956_314-952del
XM_011528010.1:c.694+9_694+13del	XP_011526312.1:n.694+9_694+13del
XM_011528011.1:c.314-956_314-952del	XP_011526313.1:n.314-956_314-952del
XR_244074.2:n.844+9_844+13del
XM_011528010.2:c.694+9_694+13del	XP_011526312.1:n.694+9_694+13del
XR_001753685.2:n.811+9_811+13del
XR_001753686.2:n.811+9_811+13del
NM_000527.5:c.694+9_694+13del MANE Select	NP_000518.1:n.694+9_694+13del
NM_001195798.2:c.694+9_694+13del	NP_001182727.1:n.694+9_694+13del
NM_001195799.2:c.571+9_571+13del	NP_001182728.1:n.571+9_571+13del
NM_001195800.2:c.314-1783_314-1779del	NP_001182729.1:n.314-1783_314-1779del
NM_001195803.2:c.314-956_314-952del	NP_001182732.1:n.314-956_314-952del