Canonical Allele Identifier: CA631765527
Gene: LDLR HGNC NCBI

Linked Data

dbSNP Id: rs1363507242
gnomAD v2: 19-11221603-CT-C
gnomAD v3: 19-11110927-CT-C
gnomAD v4: 19-11110927-CT-C
MyVariant Identifiers: chr19:g.11221604del (hg19) chr19:g.11110928del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11110928del , CM000681.2:g.11110928del GRCh38
NC_000019.9:g.11221604del , CM000681.1:g.11221604del GRCh37
NC_000019.8:g.11082604del NCBI36
NG_009060.1:g.26548del , LRG_274:g.26548del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1318+157del ENSP00000252444.6:n.1318+157del
ENST00000559340.2:c.1060+157del ENSP00000453696.2:n.1060+157del
ENST00000560467.2:c.941-586del ENSP00000453513.2:n.941-586del
ENST00000558518.6:c.1060+157del MANE Select ENSP00000454071.1:n.1060+157del
ENST00000252444.9:c.1314+157del
ENST00000455727.6:c.556+157del ENSP00000397829.2:n.556+157del
ENST00000535915.5:c.937+157del ENSP00000440520.1:n.937+157del
ENST00000545707.5:c.679+157del ENSP00000437639.1:n.679+157del
ENST00000557933.5:c.1060+157del ENSP00000453557.1:n.1060+157del
ENST00000558013.5:c.1060+157del ENSP00000453346.1:n.1060+157del
ENST00000558518.5:c.1060+157del ENSP00000454071.1:n.1060+157del
ENST00000560173.1:n.59+157del
ENST00000560467.1:c.541-586del
NM_000527.4:c.1060+157del , LRG_274t1:c.1060+157del NP_000518.1:n.1060+157del
NM_001195798.1:c.1060+157del NP_001182727.1:n.1060+157del
NM_001195799.1:c.937+157del NP_001182728.1:n.937+157del
NM_001195800.1:c.556+157del NP_001182729.1:n.556+157del
NM_001195803.1:c.679+157del NP_001182732.1:n.679+157del
XM_011528010.1:c.1060+157del XP_011526312.1:n.1060+157del
XM_011528011.1:c.679+157del XP_011526313.1:n.679+157del
XR_244074.2:n.1210+157del
XM_011528010.2:c.1060+157del XP_011526312.1:n.1060+157del
XR_001753685.2:n.1177+157del
XR_001753686.2:n.1177+157del
NM_000527.5:c.1060+157del MANE Select NP_000518.1:n.1060+157del
NM_001195798.2:c.1060+157del NP_001182727.1:n.1060+157del
NM_001195799.2:c.937+157del NP_001182728.1:n.937+157del
NM_001195800.2:c.556+157del NP_001182729.1:n.556+157del
NM_001195803.2:c.679+157del NP_001182732.1:n.679+157del
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