Canonical Allele Identifier: CA993515961

Linked Data

dbSNP Id: rs2077734125

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11132564_11132566dup , CM000681.2:g.11132564_11132566dup GRCh38
NC_000019.9:g.11243240_11243242dup , CM000681.1:g.11243240_11243242dup GRCh37
NC_000019.8:g.11104240_11104242dup NCBI36
NG_009060.1:g.48184_48186dup , LRG_274:g.48184_48186dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.*1248_*1250dup (LDLR) ENSP00000252444.6:n.*1248_*1250dup
ENST00000559340.2:c.*1900_*1902dup (LDLR) ENSP00000453696.2:n.*1900_*1902dup
ENST00000560467.2:c.*1248_*1250dup (LDLR) ENSP00000453513.2:n.*1248_*1250dup
ENST00000558518.6:c.*1248_*1250dup (LDLR) MANE Select ENSP00000454071.1:n.*1248_*1250dup
ENST00000252444.9:c.4085_4087dup (LDLR)
ENST00000560628.1:n.109-531_109-529dup (LDLR)
ENST00000585567.5:c.540-956_540-954dup (SPC24) ENSP00000468818.1:n.540-956_540-954dup
NM_000527.4:c.*1248_*1250dup , LRG_274t1:c.*1248_*1250dup (LDLR) NP_000518.1:n.*1248_*1250dup
NM_001195798.1:c.*1248_*1250dup (LDLR) NP_001182727.1:n.*1248_*1250dup
NM_001195799.1:c.*1248_*1250dup (LDLR) NP_001182728.1:n.*1248_*1250dup
NM_001195800.1:c.*1248_*1250dup (LDLR) NP_001182729.1:n.*1248_*1250dup
NM_001195803.1:c.*1248_*1250dup (LDLR) NP_001182732.1:n.*1248_*1250dup
XM_011528010.1:c.*1248_*1250dup (LDLR) XP_011526312.1:n.*1248_*1250dup
XM_011528011.1:c.*1248_*1250dup (LDLR) XP_011526313.1:n.*1248_*1250dup
XM_011528010.2:c.*1248_*1250dup (LDLR) XP_011526312.1:n.*1248_*1250dup
XR_001753685.2:n.4165_4167dup (LDLR)
XR_001753686.2:n.3808_3810dup (LDLR)
NM_000527.5:c.*1248_*1250dup (LDLR) MANE Select NP_000518.1:n.*1248_*1250dup
NM_001195798.2:c.*1248_*1250dup (LDLR) NP_001182727.1:n.*1248_*1250dup
NM_001195799.2:c.*1248_*1250dup (LDLR) NP_001182728.1:n.*1248_*1250dup
NM_001195800.2:c.*1248_*1250dup (LDLR) NP_001182729.1:n.*1248_*1250dup
NM_001195803.2:c.*1248_*1250dup (LDLR) NP_001182732.1:n.*1248_*1250dup