Canonical Allele Identifier: CA2322766023
Gene: LDLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11102727_11102736delinsAGTTCTGGAG , CM000681.2:g.11102727_11102736delinsAGTTCTGGAG GRCh38
NC_000019.9:g.11213403_11213412delinsAGTTCTGGAG , CM000681.1:g.11213403_11213412delinsAGTTCTGGAG GRCh37
NC_000019.8:g.11074403_11074412delinsAGTTCTGGAG NCBI36
NG_009060.1:g.18347_18356delinsAGTTCTGGAG , LRG_274:g.18347_18356delinsAGTTCTGGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252444.10:c.512_521delinsAGTTCTGGAG ENSP00000252444.6:p.Gln171=
ENST00000559340.2:c.254_263delinsAGTTCTGGAG ENSP00000453696.2:p.Gln85=
ENST00000560467.2:c.254_263delinsAGTTCTGGAG ENSP00000453513.2:p.Gln85=
ENST00000558518.6:c.254_263delinsAGTTCTGGAG MANE Select ENSP00000454071.1:p.Gln85=
ENST00000252444.9:c.508_517delinsAGTTCTGGAG
ENST00000455727.6:c.254_263delinsAGTTCTGGAG ENSP00000397829.2:p.Gln85=
ENST00000535915.5:c.190+2382_190+2391delinsAGTTCTGGAG ENSP00000440520.1:n.190+2382_190+2391delinsAGTTCTGGAG
ENST00000545707.5:c.254_263delinsAGTTCTGGAG ENSP00000437639.1:p.Gln85=
ENST00000557933.5:c.254_263delinsAGTTCTGGAG ENSP00000453557.1:p.Gln85=
ENST00000557958.1:n.340_349delinsAGTTCTGGAG
ENST00000558013.5:c.254_263delinsAGTTCTGGAG ENSP00000453346.1:p.Gln85=
ENST00000558518.5:c.254_263delinsAGTTCTGGAG ENSP00000454071.1:p.Gln85=
NM_000527.4:c.254_263delinsAGTTCTGGAG , LRG_274t1:c.254_263delinsAGTTCTGGAG NP_000518.1:p.Gln85=
NM_001195798.1:c.254_263delinsAGTTCTGGAG NP_001182727.1:p.Gln85=
NM_001195799.1:c.190+2382_190+2391delinsAGTTCTGGAG NP_001182728.1:n.190+2382_190+2391delinsAGTTCTGGAG
NM_001195800.1:c.254_263delinsAGTTCTGGAG NP_001182729.1:p.Gln85=
NM_001195803.1:c.254_263delinsAGTTCTGGAG NP_001182732.1:p.Gln85=
XM_011528010.1:c.254_263delinsAGTTCTGGAG XP_011526312.1:p.Gln85=
XM_011528011.1:c.254_263delinsAGTTCTGGAG XP_011526313.1:p.Gln85=
XR_244074.2:n.404_413delinsAGTTCTGGAG
XM_011528010.2:c.254_263delinsAGTTCTGGAG XP_011526312.1:p.Gln85=
XR_001753685.2:n.371_380delinsAGTTCTGGAG
XR_001753686.2:n.371_380delinsAGTTCTGGAG
NM_000527.5:c.254_263delinsAGTTCTGGAG MANE Select NP_000518.1:p.Gln85=
NM_001195798.2:c.254_263delinsAGTTCTGGAG NP_001182727.1:p.Gln85=
NM_001195799.2:c.190+2382_190+2391delinsAGTTCTGGAG NP_001182728.1:n.190+2382_190+2391delinsAGTTCTGGAG
NM_001195800.2:c.254_263delinsAGTTCTGGAG NP_001182729.1:p.Gln85=
NM_001195803.2:c.254_263delinsAGTTCTGGAG NP_001182732.1:p.Gln85=
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