Canonical Allele Identifier: CA2497030097
Gene: LDLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11120216del , CM000681.2:g.11120216del GRCh38
NC_000019.9:g.11230892del , CM000681.1:g.11230892del GRCh37
NC_000019.8:g.11091892del NCBI36
NG_009060.1:g.35836del , LRG_274:g.35836del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.2228del ENSP00000252444.6:p.Asn743ThrfsTer8
ENST00000559340.2:c.*39del ENSP00000453696.2:n.*39del
ENST00000560467.2:c.1850del ENSP00000453513.2:p.Asn617ThrfsTer8
ENST00000558518.6:c.1970del MANE Select ENSP00000454071.1:p.Asn657ThrfsTer8
ENST00000252444.9:c.2224del
ENST00000455727.6:c.1466del ENSP00000397829.2:p.Asn489ThrfsTer8
ENST00000535915.5:c.1847del ENSP00000440520.1:p.Asn616ThrfsTer8
ENST00000545707.5:c.1589del ENSP00000437639.1:p.Asn530ThrfsTer22
ENST00000557933.5:c.1970del ENSP00000453557.1:p.Asn657ThrfsTer8
ENST00000558013.5:c.1970del ENSP00000453346.1:p.Asn657ThrfsTer8
ENST00000558518.5:c.1970del ENSP00000454071.1:p.Asn657ThrfsTer8
ENST00000559340.1:c.551del
NM_000527.4:c.1970del , LRG_274t1:c.1970del NP_000518.1:p.Asn657ThrfsTer8
NM_001195798.1:c.1970del NP_001182727.1:p.Asn657ThrfsTer8
NM_001195799.1:c.1847del NP_001182728.1:p.Asn616ThrfsTer8
NM_001195800.1:c.1466del NP_001182729.1:p.Asn489ThrfsTer8
NM_001195803.1:c.1589del NP_001182732.1:p.Asn530ThrfsTer22
XM_011528010.1:c.1970del XP_011526312.1:p.Asn657ThrfsTer8
XM_011528011.1:c.1589del XP_011526313.1:p.Asn530ThrfsTer8
XR_244074.2:n.1980del
XM_011528010.2:c.1970del XP_011526312.1:p.Asn657ThrfsTer8
XR_001753685.2:n.2087del
XR_001753686.2:n.1947del
NM_000527.5:c.1970del MANE Select NP_000518.1:p.Asn657ThrfsTer8
NM_001195798.2:c.1970del NP_001182727.1:p.Asn657ThrfsTer8
NM_001195799.2:c.1847del NP_001182728.1:p.Asn616ThrfsTer8
NM_001195800.2:c.1466del NP_001182729.1:p.Asn489ThrfsTer8
NM_001195803.2:c.1589del NP_001182732.1:p.Asn530ThrfsTer22