Canonical Allele Identifier: CA631762309
Gene: LDLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11100228_11100229insCCGTATCATTAAAAAAAA , CM000681.2:g.11100228_11100229insCCGTATCATTAAAAAAAA GRCh38
NC_000019.9:g.11210904_11210905insCCGTATCATTAAAAAAAA , CM000681.1:g.11210904_11210905insCCGTATCATTAAAAAAAA GRCh37
NC_000019.8:g.11071904_11071905insCCGTATCATTAAAAAAAA NCBI36
NG_009060.1:g.15848_15849insCCGTATCATTAAAAAAAA , LRG_274:g.15848_15849insCCGTATCATTAAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.331_332insCCGTATCATTAAAAAAAA ENSP00000252444.6:p.Asp111delinsAlaValSerLeuLysLysAsn
ENST00000559340.2:c.73_74insCCGTATCATTAAAAAAAA ENSP00000453696.2:p.Asp25delinsAlaValSerLeuLysLysAsn
ENST00000560467.2:c.73_74insCCGTATCATTAAAAAAAA ENSP00000453513.2:p.Asp25delinsAlaValSerLeuLysLysAsn
ENST00000558518.6:c.73_74insCCGTATCATTAAAAAAAA MANE Select ENSP00000454071.1:p.Asp25delinsAlaValSerLeuLysLysAsn
ENST00000252444.9:c.327_328insCCGTATCATTAAAAAAAA
ENST00000455727.6:c.73_74insCCGTATCATTAAAAAAAA ENSP00000397829.2:p.Asp25delinsAlaValSerLeuLysLysAsn
ENST00000535915.5:c.73_74insCCGTATCATTAAAAAAAA ENSP00000440520.1:p.Asp25delinsAlaValSerLeuLysLysAsn
ENST00000545707.5:c.73_74insCCGTATCATTAAAAAAAA ENSP00000437639.1:p.Asp25delinsAlaValSerLeuLysLysAsn
ENST00000557933.5:c.73_74insCCGTATCATTAAAAAAAA ENSP00000453557.1:p.Asp25delinsAlaValSerLeuLysLysAsn
ENST00000557958.1:n.159_160insCCGTATCATTAAAAAAAA
ENST00000558013.5:c.73_74insCCGTATCATTAAAAAAAA ENSP00000453346.1:p.Asp25delinsAlaValSerLeuLysLysAsn
ENST00000558518.5:c.73_74insCCGTATCATTAAAAAAAA ENSP00000454071.1:p.Asp25delinsAlaValSerLeuLysLysAsn
ENST00000560502.5:n.159_160insCCGTATCATTAAAAAAAA
NM_000527.4:c.73_74insCCGTATCATTAAAAAAAA , LRG_274t1:c.73_74insCCGTATCATTAAAAAAAA NP_000518.1:p.Asp25delinsAlaValSerLeuLysLysAsn
NM_001195798.1:c.73_74insCCGTATCATTAAAAAAAA NP_001182727.1:p.Asp25delinsAlaValSerLeuLysLysAsn
NM_001195799.1:c.73_74insCCGTATCATTAAAAAAAA NP_001182728.1:p.Asp25delinsAlaValSerLeuLysLysAsn
NM_001195800.1:c.73_74insCCGTATCATTAAAAAAAA NP_001182729.1:p.Asp25delinsAlaValSerLeuLysLysAsn
NM_001195803.1:c.73_74insCCGTATCATTAAAAAAAA NP_001182732.1:p.Asp25delinsAlaValSerLeuLysLysAsn
XM_011528010.1:c.73_74insCCGTATCATTAAAAAAAA XP_011526312.1:p.Asp25delinsAlaValSerLeuLysLysAsn
XM_011528011.1:c.73_74insCCGTATCATTAAAAAAAA XP_011526313.1:p.Asp25delinsAlaValSerLeuLysLysAsn
XR_244074.2:n.223_224insCCGTATCATTAAAAAAAA
XM_011528010.2:c.73_74insCCGTATCATTAAAAAAAA XP_011526312.1:p.Asp25delinsAlaValSerLeuLysLysAsn
XR_001753685.2:n.190_191insCCGTATCATTAAAAAAAA
XR_001753686.2:n.190_191insCCGTATCATTAAAAAAAA
NM_000527.5:c.73_74insCCGTATCATTAAAAAAAA MANE Select NP_000518.1:p.Asp25delinsAlaValSerLeuLysLysAsn
NM_001195798.2:c.73_74insCCGTATCATTAAAAAAAA NP_001182727.1:p.Asp25delinsAlaValSerLeuLysLysAsn
NM_001195799.2:c.73_74insCCGTATCATTAAAAAAAA NP_001182728.1:p.Asp25delinsAlaValSerLeuLysLysAsn
NM_001195800.2:c.73_74insCCGTATCATTAAAAAAAA NP_001182729.1:p.Asp25delinsAlaValSerLeuLysLysAsn
NM_001195803.2:c.73_74insCCGTATCATTAAAAAAAA NP_001182732.1:p.Asp25delinsAlaValSerLeuLysLysAsn