Canonical Allele Identifier: CA2582475570

Gene: LDLR

Linked Data

• gnomAD v4: 19-11123476-C-CCAGAGACACACGGCCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11123476_11123477insCAGAGACACACGGCCCAA , CM000681.2:g.11123476_11123477insCAGAGACACACGGCCCAA	GRCh38
NC_000019.9:g.11234152_11234153insCAGAGACACACGGCCCAA , CM000681.1:g.11234152_11234153insCAGAGACACACGGCCCAA	GRCh37
NC_000019.8:g.11095152_11095153insCAGAGACACACGGCCCAA	NCBI36
NG_009060.1:g.39096_39097insCAGAGACACACGGCCCAA , LRG_274:g.39096_39097insCAGAGACACACGGCCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252444.10:c.2569+132_2569+133insCAGAGACACACGGCCCAA	ENSP00000252444.6:n.2569+132_2569+133insCAGAGACACACGGCCCAA
ENST00000559340.2:c.*380+132_*380+133insCAGAGACACACGGCCCAA	ENSP00000453696.2:n.*380+132_*380+133insCAGAGACACACGGCCCAA
ENST00000560467.2:c.2191+132_2191+133insCAGAGACACACGGCCCAA	ENSP00000453513.2:n.2191+132_2191+133insCAGAGACACACGGCCCAA
ENST00000558518.6:c.2311+132_2311+133insCAGAGACACACGGCCCAA MANE Select	ENSP00000454071.1:n.2311+132_2311+133insCAGAGACACACGGCCCAA
ENST00000252444.9:c.2565+132_2565+133insCAGAGACACACGGCCCAA
ENST00000455727.6:c.1807+132_1807+133insCAGAGACACACGGCCCAA	ENSP00000397829.2:n.1807+132_1807+133insCAGAGACACACGGCCCAA
ENST00000535915.5:c.2188+132_2188+133insCAGAGACACACGGCCCAA	ENSP00000440520.1:n.2188+132_2188+133insCAGAGACACACGGCCCAA
ENST00000545707.5:c.1777+132_1777+133insCAGAGACACACGGCCCAA	ENSP00000437639.1:n.1777+132_1777+133insCAGAGACACACGGCCCAA
ENST00000557933.5:c.2311+132_2311+133insCAGAGACACACGGCCCAA	ENSP00000453557.1:n.2311+132_2311+133insCAGAGACACACGGCCCAA
ENST00000558013.5:c.2311+132_2311+133insCAGAGACACACGGCCCAA	ENSP00000453346.1:n.2311+132_2311+133insCAGAGACACACGGCCCAA
ENST00000558518.5:c.2311+132_2311+133insCAGAGACACACGGCCCAA	ENSP00000454071.1:n.2311+132_2311+133insCAGAGACACACGGCCCAA
NM_000527.4:c.2311+132_2311+133insCAGAGACACACGGCCCAA , LRG_274t1:c.2311+132_2311+133insCAGAGACACACGGCCCAA	NP_000518.1:n.2311+132_2311+133insCAGAGACACACGGCCCAA
NM_001195798.1:c.2311+132_2311+133insCAGAGACACACGGCCCAA	NP_001182727.1:n.2311+132_2311+133insCAGAGACACACGGCCCAA
NM_001195799.1:c.2188+132_2188+133insCAGAGACACACGGCCCAA	NP_001182728.1:n.2188+132_2188+133insCAGAGACACACGGCCCAA
NM_001195800.1:c.1807+132_1807+133insCAGAGACACACGGCCCAA	NP_001182729.1:n.1807+132_1807+133insCAGAGACACACGGCCCAA
NM_001195803.1:c.1777+132_1777+133insCAGAGACACACGGCCCAA	NP_001182732.1:n.1777+132_1777+133insCAGAGACACACGGCCCAA
XM_011528010.1:c.2311+132_2311+133insCAGAGACACACGGCCCAA	XP_011526312.1:n.2311+132_2311+133insCAGAGACACACGGCCCAA
XM_011528011.1:c.1930+132_1930+133insCAGAGACACACGGCCCAA	XP_011526313.1:n.1930+132_1930+133insCAGAGACACACGGCCCAA
XR_244074.2:n.2321+132_2321+133insCAGAGACACACGGCCCAA
XM_011528010.2:c.2311+132_2311+133insCAGAGACACACGGCCCAA	XP_011526312.1:n.2311+132_2311+133insCAGAGACACACGGCCCAA
XR_001753685.2:n.2645+132_2645+133insCAGAGACACACGGCCCAA
XR_001753686.2:n.2288+132_2288+133insCAGAGACACACGGCCCAA
NM_000527.5:c.2311+132_2311+133insCAGAGACACACGGCCCAA MANE Select	NP_000518.1:n.2311+132_2311+133insCAGAGACACACGGCCCAA
NM_001195798.2:c.2311+132_2311+133insCAGAGACACACGGCCCAA	NP_001182727.1:n.2311+132_2311+133insCAGAGACACACGGCCCAA
NM_001195799.2:c.2188+132_2188+133insCAGAGACACACGGCCCAA	NP_001182728.1:n.2188+132_2188+133insCAGAGACACACGGCCCAA
NM_001195800.2:c.1807+132_1807+133insCAGAGACACACGGCCCAA	NP_001182729.1:n.1807+132_1807+133insCAGAGACACACGGCCCAA
NM_001195803.2:c.1777+132_1777+133insCAGAGACACACGGCCCAA	NP_001182732.1:n.1777+132_1777+133insCAGAGACACACGGCCCAA