Canonical Allele Identifier: CA2813590057
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120373dup , CM000681.2:g.11120373dup GRCh38
NC_000019.9:g.11231049dup , CM000681.1:g.11231049dup GRCh37
NC_000019.8:g.11092049dup NCBI36
NG_009060.1:g.35993dup , LRG_274:g.35993dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2249dup ENSP00000252444.6:p.Asn751GlufsTer4
ENST00000559340.2:c.*60dup ENSP00000453696.2:n.*60dup
ENST00000560467.2:c.1871dup ENSP00000453513.2:p.Asn625GlufsTer4
ENST00000558518.6:c.1991dup MANE Select ENSP00000454071.1:p.Asn665GlufsTer4
ENST00000252444.9:c.2245dup
ENST00000455727.6:c.1487dup ENSP00000397829.2:p.Asn497GlufsTer4
ENST00000535915.5:c.1868dup ENSP00000440520.1:p.Asn624GlufsTer4
ENST00000545707.5:c.1606+140dup ENSP00000437639.1:n.1606+140dup
ENST00000557933.5:c.1991dup ENSP00000453557.1:p.Asn665GlufsTer4
ENST00000558013.5:c.1991dup ENSP00000453346.1:p.Asn665GlufsTer4
ENST00000558518.5:c.1991dup ENSP00000454071.1:p.Asn665GlufsTer4
ENST00000559340.1:c.572dup
NM_000527.4:c.1991dup , LRG_274t1:c.1991dup NP_000518.1:p.Asn665GlufsTer4
NM_001195798.1:c.1991dup NP_001182727.1:p.Asn665GlufsTer4
NM_001195799.1:c.1868dup NP_001182728.1:p.Asn624GlufsTer4
NM_001195800.1:c.1487dup NP_001182729.1:p.Asn497GlufsTer4
NM_001195803.1:c.1606+140dup NP_001182732.1:n.1606+140dup
XM_011528010.1:c.1991dup XP_011526312.1:p.Asn665GlufsTer4
XM_011528011.1:c.1610dup XP_011526313.1:p.Asn538GlufsTer4
XR_244074.2:n.2001dup
XM_011528010.2:c.1991dup XP_011526312.1:p.Asn665GlufsTer4
XR_001753685.2:n.2108dup
XR_001753686.2:n.1968dup
NM_000527.5:c.1991dup MANE Select NP_000518.1:p.Asn665GlufsTer4
NM_001195798.2:c.1991dup NP_001182727.1:p.Asn665GlufsTer4
NM_001195799.2:c.1868dup NP_001182728.1:p.Asn624GlufsTer4
NM_001195800.2:c.1487dup NP_001182729.1:p.Asn497GlufsTer4
NM_001195803.2:c.1606+140dup NP_001182732.1:n.1606+140dup