Canonical Allele Identifier: CA2497030192
Gene: LDLR HGNC NCBI
LDLR-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089411_11089413del , CM000681.2:g.11089411_11089413del GRCh38
NC_000019.9:g.11200087_11200089del , CM000681.1:g.11200087_11200089del GRCh37
NC_000019.8:g.11061087_11061089del NCBI36
NG_009060.1:g.5031_5033del , LRG_274:g.5031_5033del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558518.5:c.-138_-136del (LDLR) ENSP00000454071.1:n.-138_-136del
NM_000527.4:c.-138_-136del , LRG_274t1:c.-138_-136del (LDLR) NP_000518.1:n.-138_-136del
NM_001195798.1:c.-138_-136del (LDLR) NP_001182727.1:n.-138_-136del
NM_001195799.1:c.-138_-136del (LDLR) NP_001182728.1:n.-138_-136del
NM_001195800.1:c.-138_-136del (LDLR) NP_001182729.1:n.-138_-136del
NM_001195803.1:c.-138_-136del (LDLR) NP_001182732.1:n.-138_-136del
XM_011528010.1:c.-138_-136del (LDLR) XP_011526312.1:n.-138_-136del
XM_011528011.1:c.-138_-136del (LDLR) XP_011526313.1:n.-138_-136del
XR_244074.2:n.13_15del (LDLR)
NR_163945.1:n.251_253del (LDLR-AS1)
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