Canonical Allele Identifier: CA2322765907
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102549_11102593delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG , CM000681.2:g.11102549_11102593delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG GRCh38
NC_000019.9:g.11213225_11213269delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG , CM000681.1:g.11213225_11213269delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG GRCh37
NC_000019.8:g.11074225_11074269delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG NCBI36
NG_009060.1:g.18169_18213delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG , LRG_274:g.18169_18213delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.449-115_449-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG ENSP00000252444.6:n.449-115_449-71delinsACGTGATCCACCCGCCTTGGC...
ENST00000559340.2:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG ENSP00000453696.2:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGC...
ENST00000560467.2:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG ENSP00000453513.2:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGC...
ENST00000558518.6:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG MANE Select ENSP00000454071.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGC...
ENST00000252444.9:c.445-115_445-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG
ENST00000455727.6:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG ENSP00000397829.2:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGC...
ENST00000535915.5:c.190+2204_190+2248delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG ENSP00000440520.1:n.190+2204_190+2248delinsACGTGATCCACCCGCCTT...
ENST00000545707.5:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG ENSP00000437639.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGC...
ENST00000557933.5:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG ENSP00000453557.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGC...
ENST00000557958.1:n.277-115_277-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG
ENST00000558013.5:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG ENSP00000453346.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGC...
ENST00000558518.5:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG ENSP00000454071.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGC...
NM_000527.4:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG , LRG_274t1:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG NP_000518.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCA...
NM_001195798.1:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG NP_001182727.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTC...
NM_001195799.1:c.190+2204_190+2248delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG NP_001182728.1:n.190+2204_190+2248delinsACGTGATCCACCCGCCTTGGC...
NM_001195800.1:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG NP_001182729.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTC...
NM_001195803.1:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG NP_001182732.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTC...
XM_011528010.1:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG XP_011526312.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTC...
XM_011528011.1:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG XP_011526313.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTC...
XR_244074.2:n.341-115_341-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG
XM_011528010.2:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG XP_011526312.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTC...
XR_001753685.2:n.308-115_308-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG
XR_001753686.2:n.308-115_308-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG
NM_000527.5:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG MANE Select NP_000518.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCA...
NM_001195798.2:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG NP_001182727.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTC...
NM_001195799.2:c.190+2204_190+2248delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG NP_001182728.1:n.190+2204_190+2248delinsACGTGATCCACCCGCCTTGGC...
NM_001195800.2:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG NP_001182729.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTC...
NM_001195803.2:c.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG NP_001182732.1:n.191-115_191-71delinsACGTGATCCACCCGCCTTGGCCTC...