Canonical Allele Identifier: CA2497030065
Gene: LDLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11113636del , CM000681.2:g.11113636del GRCh38
NC_000019.9:g.11224312del , CM000681.1:g.11224312del GRCh37
NC_000019.8:g.11085312del NCBI36
NG_009060.1:g.29256del , LRG_274:g.29256del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.1718del ENSP00000252444.6:p.Asn573ThrfsTer20
ENST00000559340.2:c.1460del ENSP00000453696.2:p.Asn487ThrfsTer20
ENST00000560467.2:c.1340del ENSP00000453513.2:p.Asn447ThrfsTer20
ENST00000558518.6:c.1460del MANE Select ENSP00000454071.1:p.Asn487ThrfsTer20
ENST00000252444.9:c.1714del
ENST00000455727.6:c.956del ENSP00000397829.2:p.Asn319ThrfsTer20
ENST00000535915.5:c.1337del ENSP00000440520.1:p.Asn446ThrfsTer20
ENST00000545707.5:c.1079del ENSP00000437639.1:p.Asn360ThrfsTer20
ENST00000557933.5:c.1460del ENSP00000453557.1:p.Asn487ThrfsTer20
ENST00000558013.5:c.1460del ENSP00000453346.1:p.Asn487ThrfsTer20
ENST00000558518.5:c.1460del ENSP00000454071.1:p.Asn487ThrfsTer20
ENST00000559340.1:c.181del
NM_000527.4:c.1460del , LRG_274t1:c.1460del NP_000518.1:p.Asn487ThrfsTer20
NM_001195798.1:c.1460del NP_001182727.1:p.Asn487ThrfsTer20
NM_001195799.1:c.1337del NP_001182728.1:p.Asn446ThrfsTer20
NM_001195800.1:c.956del NP_001182729.1:p.Asn319ThrfsTer20
NM_001195803.1:c.1079del NP_001182732.1:p.Asn360ThrfsTer20
XM_011528010.1:c.1460del XP_011526312.1:p.Asn487ThrfsTer20
XM_011528011.1:c.1079del XP_011526313.1:p.Asn360ThrfsTer20
XR_244074.2:n.1610del
XM_011528010.2:c.1460del XP_011526312.1:p.Asn487ThrfsTer20
XR_001753685.2:n.1577del
XR_001753686.2:n.1577del
NM_000527.5:c.1460del MANE Select NP_000518.1:p.Asn487ThrfsTer20
NM_001195798.2:c.1460del NP_001182727.1:p.Asn487ThrfsTer20
NM_001195799.2:c.1337del NP_001182728.1:p.Asn446ThrfsTer20
NM_001195800.2:c.956del NP_001182729.1:p.Asn319ThrfsTer20
NM_001195803.2:c.1079del NP_001182732.1:p.Asn360ThrfsTer20
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