Canonical Allele Identifier: CA2582473423

Gene: LDLR

Linked Data

• gnomAD v4: 19-11105619-T-TGGGGCCGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11105623_11105624insCCGGGGGGGGG , CM000681.2:g.11105623_11105624insCCGGGGGGGGG	GRCh38
NC_000019.9:g.11216299_11216300insCCGGGGGGGGG , CM000681.1:g.11216299_11216300insCCGGGGGGGGG	GRCh37
NC_000019.8:g.11077299_11077300insCCGGGGGGGGG	NCBI36
NG_009060.1:g.21243_21244insCCGGGGGGGGG , LRG_274:g.21243_21244insCCGGGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.952+23_952+24insCCGGGGGGGGG	ENSP00000252444.6:n.952+23_952+24insCCGGGGGGGGG
ENST00000559340.2:c.694+23_694+24insCCGGGGGGGGG	ENSP00000453696.2:n.694+23_694+24insCCGGGGGGGGG
ENST00000560467.2:c.694+23_694+24insCCGGGGGGGGG	ENSP00000453513.2:n.694+23_694+24insCCGGGGGGGGG
ENST00000558518.6:c.694+23_694+24insCCGGGGGGGGG MANE Select	ENSP00000454071.1:n.694+23_694+24insCCGGGGGGGGG
ENST00000252444.9:c.948+23_948+24insCCGGGGGGGGG
ENST00000455727.6:c.314-1769_314-1768insCCGGGGGGGGG	ENSP00000397829.2:n.314-1769_314-1768insCCGGGGGGGGG
ENST00000535915.5:c.571+23_571+24insCCGGGGGGGGG	ENSP00000440520.1:n.571+23_571+24insCCGGGGGGGGG
ENST00000545707.5:c.314-942_314-941insCCGGGGGGGGG	ENSP00000437639.1:n.314-942_314-941insCCGGGGGGGGG
ENST00000557933.5:c.694+23_694+24insCCGGGGGGGGG	ENSP00000453557.1:n.694+23_694+24insCCGGGGGGGGG
ENST00000558013.5:c.694+23_694+24insCCGGGGGGGGG	ENSP00000453346.1:n.694+23_694+24insCCGGGGGGGGG
ENST00000558518.5:c.694+23_694+24insCCGGGGGGGGG	ENSP00000454071.1:n.694+23_694+24insCCGGGGGGGGG
ENST00000560467.1:c.294+23_294+24insCCGGGGGGGGG
NM_000527.4:c.694+23_694+24insCCGGGGGGGGG , LRG_274t1:c.694+23_694+24insCCGGGGGGGGG	NP_000518.1:n.694+23_694+24insCCGGGGGGGGG
NM_001195798.1:c.694+23_694+24insCCGGGGGGGGG	NP_001182727.1:n.694+23_694+24insCCGGGGGGGGG
NM_001195799.1:c.571+23_571+24insCCGGGGGGGGG	NP_001182728.1:n.571+23_571+24insCCGGGGGGGGG
NM_001195800.1:c.314-1769_314-1768insCCGGGGGGGGG	NP_001182729.1:n.314-1769_314-1768insCCGGGGGGGGG
NM_001195803.1:c.314-942_314-941insCCGGGGGGGGG	NP_001182732.1:n.314-942_314-941insCCGGGGGGGGG
XM_011528010.1:c.694+23_694+24insCCGGGGGGGGG	XP_011526312.1:n.694+23_694+24insCCGGGGGGGGG
XM_011528011.1:c.314-942_314-941insCCGGGGGGGGG	XP_011526313.1:n.314-942_314-941insCCGGGGGGGGG
XR_244074.2:n.844+23_844+24insCCGGGGGGGGG
XM_011528010.2:c.694+23_694+24insCCGGGGGGGGG	XP_011526312.1:n.694+23_694+24insCCGGGGGGGGG
XR_001753685.2:n.811+23_811+24insCCGGGGGGGGG
XR_001753686.2:n.811+23_811+24insCCGGGGGGGGG
NM_000527.5:c.694+23_694+24insCCGGGGGGGGG MANE Select	NP_000518.1:n.694+23_694+24insCCGGGGGGGGG
NM_001195798.2:c.694+23_694+24insCCGGGGGGGGG	NP_001182727.1:n.694+23_694+24insCCGGGGGGGGG
NM_001195799.2:c.571+23_571+24insCCGGGGGGGGG	NP_001182728.1:n.571+23_571+24insCCGGGGGGGGG
NM_001195800.2:c.314-1769_314-1768insCCGGGGGGGGG	NP_001182729.1:n.314-1769_314-1768insCCGGGGGGGGG
NM_001195803.2:c.314-942_314-941insCCGGGGGGGGG	NP_001182732.1:n.314-942_314-941insCCGGGGGGGGG